Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
P2RX1_chr17_3891592_3921465	3899245	G G	GCCAGGCT others(612): Show GCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGCAGCCTCCACCT CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGTGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATC CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGG GCCTGGCCGAGACCCCATCTCTTGCAAACAAACAAAAAAGAGTTGGGGCC AGGCACGGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGG GCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGTGGGCG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACC CGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCC TGGGGGACAGAGAGAGACTTTGCCTCAAACAAACAAACAAACAAAAAGAG ATGGGGTCTCATTCTGTCAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02922.hp2 HG03041.hp1 others(2): Show HG02258.hp2 HG02922.hp2 HG03041.hp1 HG03139.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0063 a0001c0001t0005g0102 a0001c0001t0005g0010 a0001c0001t0005g0063 a0001c0001t0005g0102	5	378	0.0132	619	c.876 others(634): Show c.876-222_876-221insGTGACAGAATGAGACCCCATCTCTTTTTGT TTGTTTGTTTGTTTGAGGCAAAGTCTCTCTCTGTCCCCCAGGCTGGAGTG CAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGACCACCGTGCCTGGCCCCAACT CTTTTTTGTTTGTTTGCAAGAGATGGGGTCTCGGCCAGGCCCGGTGGCTC ACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGG TCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGC TGCAGTGAGCCGAGATCGTGCCGCTGCACTCCAGCCTGG	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding	8/11			chr17	TogoVar
P2RX1_chr17_3891592_3921465	3899245	G G	GCCAGGCT others(612): Show GCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGCAGCCTCCACCT CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGTGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATC CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGC GCCCGGCCGAGACCCCATCTCTTGCAAACAAACAAAAAAGAGTTGGGGCC AGGCACGGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGG GCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGTGGGCG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACC CGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCC TGGGGGACAGAGAGAGACTTTGCCTCAAACAAACAAACAAACAAAAAGAG ATGGGGTCTCATTCTGTCAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	378	0.0027	619	c.876 others(634): Show c.876-222_876-221insGTGACAGAATGAGACCCCATCTCTTTTTGT TTGTTTGTTTGTTTGAGGCAAAGTCTCTCTCTGTCCCCCAGGCTGGAGTG CAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGACCACCGTGCCTGGCCCCAACT CTTTTTTGTTTGTTTGCAAGAGATGGGGTCTCGGCCGGGCGCGGTGGCTC ACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGC TGCAGTGAGCCGAGATCGTGCCGCTGCACTCCAGCCTGG	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding	8/11			chr17	TogoVar
P2RX1_chr17_3891592_3921465	3899245	G G	GCCAGGCT others(612): Show GCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGCAGCCTCCACCT CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGTGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATC CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGG GCCTGGCCGAGACCCCATCTCTTGCAAACAAACAAAAAAGAGTTGGGACC AGGCACGGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGG GCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGTGGGCG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACC CGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCC TGGGGGACAGAGAGAGACTTTGCCTCAAACAAACAAACAAACAAAAAGAG ATGGGGTCTCATTCTGTCAC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	378	0.0027	619	c.876 others(634): Show c.876-222_876-221insGTGACAGAATGAGACCCCATCTCTTTTTGT TTGTTTGTTTGTTTGAGGCAAAGTCTCTCTCTGTCCCCCAGGCTGGAGTG CAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGACCACCGTGCCTGGTCCCAACT CTTTTTTGTTTGTTTGCAAGAGATGGGGTCTCGGCCAGGCCCGGTGGCTC ACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGC TGCAGTGAGCCGAGATCGTGCCGCTGCACTCCAGCCTGG	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding	8/11			chr17	TogoVar
P2RX1_chr17_3891592_3921465	3899245	G G	GCCAGGCT others(612): Show GCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGCAGCCTCCACCT CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGTGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATC CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGG GCCTGGCCGAGACCCCATCTCTTGCAAACAAACAAAAAAGAGTTGGGGCC AGGCACGGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGG GCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCACACG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCGCCACTGCACTCCAGCC TGGGGGACAGAGAGAGACTTTGCCTCAAACAAACAAACAAACAAAAAGAG ATGGGGTCTCATTCTGTCAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02559.hp2 HG02572.hp2 others(8): Show HG01109.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG03139.hp2 HG03209.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 others(2): Show a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0006t0011	a0001c0001t0009g0038 a0001c0001t0009g0039 a0001c0001t0009g0040 others(8): Show a0001c0001t0009g0038 a0001c0001t0009g0039 a0001c0001t0009g0040 a0001c0001t0009g0101 a0001c0001t0010g0064 a0001c0001t0010g0067 a0001c0001t0010g0121 a0001c0001t0011g0058 a0001c0001t0011g0116 a0001c0001t0016g0119 a0001c0006t0011g0082	11	378	0.0291	619	c.876 others(634): Show c.876-222_876-221insGTGACAGAATGAGACCCCATCTCTTTTTGT TTGTTTGTTTGTTTGAGGCAAAGTCTCTCTCTGTCCCCCAGGCTGGAGTG CAGTGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGACCACCGTGCCTGGCCCCAACT CTTTTTTGTTTGTTTGCAAGAGATGGGGTCTCGGCCAGGCCCGGTGGCTC ACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGC TGCAGTGAGCCGAGATCGTGCCGCTGCACTCCAGCCTGG	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding	8/11			chr17	TogoVar
P2RX1_chr17_3891592_3921465	3899245	G G	GCCAGGCT others(612): Show GCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGCAGCCTCCACCT CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGTGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATC CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGG GCCTGGCCGAGACCCCATCTCTTGCAAACAAACAAAAAAGAGTTGGGGCC AGGCACGGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGG GCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACC CGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCC TGGGGGACAGAGAGAGACTTTGCCTCAAACAAACAAACAAACAAAAAGAG ATGGGGTCTCATTCTGTCAC	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18960.hp2 NA19056.hp2 HG02155.hp2 NA18960.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0210 a0001c0001t0001g0034 a0001c0001t0001g0210	3	378	0.0079	619	c.876 others(634): Show c.876-222_876-221insGTGACAGAATGAGACCCCATCTCTTTTTGT TTGTTTGTTTGTTTGAGGCAAAGTCTCTCTCTGTCCCCCAGGCTGGAGTG CAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGACCACCGTGCCTGGCCCCAACT CTTTTTTGTTTGTTTGCAAGAGATGGGGTCTCGGCCAGGCCCGGTGGCTC ACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGC TGCAGTGAGCCGAGATCGTGCCGCTGCACTCCAGCCTGG	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding	8/11			chr17	TogoVar
P2RX1_chr17_3891592_3921465	3899245	G G	GCCAGGCT others(612): Show GCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGCAGCCTCCACCT CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGTGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATC CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGG GCCTGGCCGAGACCCCATCTCTTGCAAACAAACAAAAAAGAGTTGGGGCC AGGCACGGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGG GCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGTGGGCG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACC CGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTACACTCCAGCC TGGGGGACAGAGAGAGACTTTGCCTCAAACAAACAAACAAACAAAAAGAG ATGGGGTCTCATTCTGTCAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00738.hp2 others(26): Show HG00280.hp2 HG00323.hp2 HG00738.hp2 HG00741.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp1 HG02040.hp2 HG03209.hp2 HG03490.hp2 NA18747.hp2 NA18942.hp1 NA18948.hp1 NA18954.hp1 NA18970.hp1 NA18983.hp1 NA19012.hp1 NA19064.hp1 NA19067.hp1 NA19078.hp1 NA19080.hp2 NA19084.hp2 NA19090.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0017 a0001c0001t0004g0018 others(19): Show a0001c0001t0004g0006 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0021 a0001c0001t0004g0049 a0001c0001t0004g0066 a0001c0001t0004g0068 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0130 a0001c0001t0004g0132 a0001c0001t0004g0134 a0001c0001t0004g0141 a0001c0001t0004g0148 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0250	29	378	0.0767	619	c.876 others(634): Show c.876-222_876-221insGTGACAGAATGAGACCCCATCTCTTTTTGT TTGTTTGTTTGTTTGAGGCAAAGTCTCTCTCTGTCCCCCAGGCTGGAGTG TAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGACCACCGTGCCTGGCCCCAACT CTTTTTTGTTTGTTTGCAAGAGATGGGGTCTCGGCCAGGCCCGGTGGCTC ACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGC TGCAGTGAGCCGAGATCGTGCCGCTGCACTCCAGCCTGG	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding	8/11			chr17	TogoVar
P2RX1_chr17_3891592_3921465	3899245	G G	GCCAGGCT others(612): Show GCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGCAGCCTCCACCT CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGTGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATC CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGG GCCTGGCCGAGACCCCATCTCTTGCAAACAAACAAAAAAGAGTTGGGGCC AGGCACGGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGG GCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGTGGGCG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACC CGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCC TGGCGGACAGAGAGAGACTTTGCCTCAAACAAACAAACAAACAAAAAGAG ATGGGGTCTCATTCTGTCAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02109.hp1 HG02683.hp2 others(2): Show HG00099.hp2 HG02109.hp1 HG02683.hp2 HG03688.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0113 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0113	5	378	0.0132	619	c.876 others(634): Show c.876-222_876-221insGTGACAGAATGAGACCCCATCTCTTTTTGT TTGTTTGTTTGTTTGAGGCAAAGTCTCTCTCTGTCCGCCAGGCTGGAGTG CAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGACCACCGTGCCTGGCCCCAACT CTTTTTTGTTTGTTTGCAAGAGATGGGGTCTCGGCCAGGCCCGGTGGCTC ACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGC TGCAGTGAGCCGAGATCGTGCCGCTGCACTCCAGCCTGG	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding	8/11			chr17	TogoVar
P2RX1_chr17_3891592_3921465	3899245	G G	GCCAGGCT others(612): Show GCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGCAGCCTCCACCT CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGTGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATC CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGG GCCTGGCCGAGACCCCATCTCTTGCAAACAAACAAAAAAGAGTTGGGGCC AGGCACGGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGG GCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGTGGGCG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACC CGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCC TGGGCGACAGAGAGAGACTTTGCCTCAAACAAACAAACAAACAAAAAGAG ATGGGGTCTCATTCTGTCAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	378	0.0027	619	c.876 others(634): Show c.876-222_876-221insGTGACAGAATGAGACCCCATCTCTTTTTGT TTGTTTGTTTGTTTGAGGCAAAGTCTCTCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGACCACCGTGCCTGGCCCCAACT CTTTTTTGTTTGTTTGCAAGAGATGGGGTCTCGGCCAGGCCCGGTGGCTC ACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGC TGCAGTGAGCCGAGATCGTGCCGCTGCACTCCAGCCTGG	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding	8/11			chr17	TogoVar
P2RX1_chr17_3891592_3921465	3899245	G G	GCCAGGCT others(612): Show GCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGCAGCCTCCACCT CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGTGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATC CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGG GCCTGGCCGAGACCCCATCTCTTGCAAACAAACAAAAAAGAGTTGGGGCC AGGCACGGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGG GCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGTGGGCG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACC CGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCC TGGGGGACAGAGAGAGACTTTGCCTCAAACAAACAAACAAACAAAAAGAG ATGGGGTCTCATTCTGTCAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(295): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19060.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0004 a0001c0007 others(6): Show a0001c0001 a0001c0004 a0001c0007 a0001c0008 a0001c0010 a0002c0002 a0003c0003 a0004c0011 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0004t0002 a0001c0007t0001 a0001c0008t0001 a0001c0010t0002 a0002c0002t0013 a0003c0003t0014 a0003c0003t0018 a0004c0011t0008 a0005c0005t0007	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(235): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0054 a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0152 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0274 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0294 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0027 a0001c0001t0002g0035 a0001c0001t0002g0052 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0110 a0001c0001t0002g0133 a0001c0001t0002g0149 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0189 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0211 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0224 a0001c0001t0002g0228 a0001c0001t0002g0248 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0279 a0001c0001t0002g0300 a0001c0001t0003g0009 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0045 a0001c0001t0003g0048 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0053 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0062 a0001c0001t0003g0065 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0086 a0001c0001t0003g0089 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0100 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0114 a0001c0001t0003g0117 a0001c0001t0003g0140 a0001c0001t0003g0145 a0001c0001t0003g0147 a0001c0001t0003g0165 a0001c0001t0003g0170 a0001c0001t0003g0208 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0236 a0001c0001t0003g0239 a0001c0001t0003g0244 a0001c0001t0003g0262 a0001c0001t0003g0272 a0001c0001t0003g0277 a0001c0001t0003g0284 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0004g0042 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0088 a0001c0001t0004g0091 a0001c0001t0004g0106 a0001c0001t0004g0111 a0001c0001t0004g0137 a0001c0001t0004g0144 a0001c0001t0004g0146 a0001c0001t0004g0151 a0001c0001t0004g0263 a0001c0001t0004g0298 a0001c0001t0005g0016 a0001c0001t0005g0090 a0001c0001t0005g0098 a0001c0001t0005g0099 a0001c0001t0005g0105 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0273 a0001c0001t0005g0282 a0001c0001t0006g0087 a0001c0001t0007g0013 a0001c0001t0007g0025 a0001c0001t0007g0109 a0001c0001t0007g0240 a0001c0001t0007g0246 a0001c0001t0007g0290 a0001c0001t0007g0292 a0001c0001t0008g0036 a0001c0001t0008g0177 a0001c0001t0008g0178 a0001c0001t0008g0245 a0001c0001t0008g0267 a0001c0001t0008g0278 a0001c0001t0008g0280 a0001c0001t0012g0061 a0001c0001t0012g0153 a0001c0001t0012g0154 a0001c0001t0014g0046 a0001c0001t0014g0155 a0001c0001t0016g0047 a0001c0001t0017g0220 a0001c0001t0020g0222 a0001c0001t0021g0259 a0001c0001t0022g0103 a0001c0001t0023g0115 a0001c0001t0024g0200 a0001c0001t0025g0073 a0001c0001t0026g0302 a0001c0004t0002g0043 a0001c0004t0002g0044 a0001c0007t0001g0193 a0001c0008t0001g0196 a0001c0010t0002g0186 a0002c0002t0013g0024 a0002c0002t0013g0156 a0003c0003t0014g0112 a0003c0003t0018g0301 a0004c0011t0008g0235 a0005c0005t0007g0291	298	378	0.7884	619	c.876 others(634): Show c.876-222_876-221insGTGACAGAATGAGACCCCATCTCTTTTTGT TTGTTTGTTTGTTTGAGGCAAAGTCTCTCTCTGTCCCCCAGGCTGGAGTG CAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGACCACCGTGCCTGGCCCCAACT CTTTTTTGTTTGTTTGCAAGAGATGGGGTCTCGGCCAGGCCCGGTGGCTC ACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGC TGCAGTGAGCCGAGATCGTGCCGCTGCACTCCAGCCTGG	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding	8/11			chr17	TogoVar
P2RX1_chr17_3891592_3921465	3899245	G G	GCCAGGCT others(612): Show GCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGCAGCCTCCACCT CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGTGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATC CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGG GCCTGGCCGAGACCCCATCTCTTGCAAACAAACAAAAAAGAGTTGGGGCC AGGCACGGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGG GCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAA CCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCACACG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCGCCACTGCACTCCAGCC TGGGGGACAGAGAGAGACTTTGCCTCAAACAAACAAACAAACAAAAAGAG ATGGGGTCTCATTCTGTCAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp1 HG02559.hp1 others(11): Show HG01891.hp2 HG02486.hp1 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG03041.hp2 HG03195.hp2 HG03225.hp2 HG03486.hp1 HG03540.hp1 NA18906.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0015 a0001c0001t0019 a0001c0001t0006 a0001c0001t0015 a0001c0001t0019	a0001c0001t0006g0005 a0001c0001t0006g0057 a0001c0001t0006g0059 others(8): Show a0001c0001t0006g0005 a0001c0001t0006g0057 a0001c0001t0006g0059 a0001c0001t0006g0060 a0001c0001t0006g0131 a0001c0001t0006g0135 a0001c0001t0006g0136 a0001c0001t0006g0138 a0001c0001t0015g0104 a0001c0001t0015g0118 a0001c0001t0019g0120	14	378	0.0370	619	c.876 others(634): Show c.876-222_876-221insGTGACAGAATGAGACCCCATCTCTTTTTGT TTGTTTGTTTGTTTGAGGCAAAGTCTCTCTCTGTCCCCCAGGCTGGAGTG CAGTGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGACCACCGTGCCTGGCCCCAACT CTTTTTTGTTTGTTTGCAAGAGATGGGGTCTCGGCCAGGCCCGGTGGCTC ACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGC TGCAGTGAGCCGAGATCGTGCCGCTGCACTCCAGCCTGG	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding	8/11			chr17	TogoVar
P2RX1_chr17_3891592_3921465	3899245	G G	GCCAGGCT others(612): Show GCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGCAGCCTCCACCT CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGTGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATC CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGG GCCTGGCCTAGACCCCATCTCTTGCAAACAAACAAAAAAGAGTTGGGGCC AGGCACGGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGG GCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGTGGGCG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACC CGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCC TGGGGGACAGAGAGAGACTTTGCCTCAAACAAACAAACAAACAAAAAGAG ATGGGGTCTCATTCTGTCAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03453.hp1 HG02615.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0023 a0001c0001t0004g0023	2	378	0.0053	619	c.876 others(634): Show c.876-222_876-221insGTGACAGAATGAGACCCCATCTCTTTTTGT TTGTTTGTTTGTTTGAGGCAAAGTCTCTCTCTGTCCCCCAGGCTGGAGTG CAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGACCACCGTGCCTGGCCCCAACT CTTTTTTGTTTGTTTGCAAGAGATGGGGTCTAGGCCAGGCCCGGTGGCTC ACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGC TGCAGTGAGCCGAGATCGTGCCGCTGCACTCCAGCCTGG	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding	8/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686705	T T	TCCCCCGC others(612): Show TCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCTGGGCCC CCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGA GAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCG CCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCC AACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGG GCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAAC AGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCC CCCGCCCAGCCTCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCC TCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAG CGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCA GAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCC GCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGG ACCCTCCCAACGTCCCCCGC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0341 a0002c0002t0001g0341	1	362	0.0028	619	c.981 others(636): Show c.981+1306_981+1307insGCGGGGGACGTTGGGAGGGTCCCTGGGG GCCCAGCTGTGTGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACG TTGGGAGGGTCCCTGGGGGCCCCGCTGTGCGTTCTCCTGTTCTGAGGCTG GGCGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGCGT TCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGTCCCT GGGGGCCCAGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGG GACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGCGTTCTCCTGTTCTGAG GCTGGGCGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCAGCTGT GTGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGT CCCTGGGGGCCCAGCTGTGTGTTCTCCTGTTCTGAGGCTGGGCGGGGGGC GGGGGACGTTGGGAGGGTCCCTGGGGGCCCAGCTGTGCGTTCTCCTGTTC TGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCAG CTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PERM1_chr1_970198_987093	977728	A A	ACCAACCC others(612): Show ACCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCT CCCACGACCCCCAATCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCG AGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCT CCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCAC TCCCCCCACCAACCCCGAGAACCGCCTCCCACTCCCCCCGCAACCCCGGG AACCGCCTCCCACCACCCCG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0229 a0002c0005t0005g0229	1	408	0.0025	619	c.215 others(638): Show c.2150-1105_2150-1104insCGGGGTGGTGGGAGGCGGTTCCCGGG GTTGCGGGGGGAGTGGGAGGCGGTTCTCGGGGTTGGTGGGGGGAGTGGGA GGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGC GGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGG TTCCCGGGGTTGGCGGGGTGGTGGGAGGCGGTTCCCGGGGTTGCGGGGGG AGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCG GGGTTGGCGGGGTGGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGG AGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGG CGGGGTGGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGT TCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGA GTGGGAGGCGGTTCCCGGGATTGGGGGTCGTGGGAGGCGGTTCTCGGGGT TGGCGGGGTGGTGGGAGGCGGTTCCCGGGATTGGGGGTCGTGGGAGGCGG TTCCCGGGGTTGGTCGGTGGGGGCAGGCGGTTCCCGGGGTTGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PIAS4_chr19_4002736_4044386	4011922	T T	TGTGTTTG others(612): Show TGTGTTTGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGA GGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGG AGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGG AGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGA GCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGGGGTGTGGAGG TGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGG AGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTG GAGGTGTGTTTGGTGTGGAG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0289 a0003c0011t0001g0289	1	334	0.0030	619	c.28- others(632): Show c.28-997_28-996insTTGGTGTGGAGGTGTGTTTGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTTTGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTGGGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PLEKHN1_chr1_961482_980865	977728	A A	ACCAACCC others(612): Show ACCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCT CCCACGACCCCCAATCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCG AGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCT CCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCAC TCCCCCCACCAACCCCGAGAACCGCCTCCCACTCCCCCCGCAACCCCGGG AACCGCCTCCCACCACCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0010 a0001c0009t0010	a0001c0009t0010g0015 a0001c0009t0010g0015	1	422	0.0024	619	c.31 others(630): Show c.3153_*3154insCCAACCCCGGGAACCGCCTGCCCCCACCGACCAA CCCCGGGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACC ACCCCGCCAACCCCGAGAACCGCCTCCCACGACCCCCAATCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCA ACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCC ACCACCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCC CGCCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCG CCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAA CCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCG GGAACCGCCTCCCACTCCCCCCACCAACCCCGAGAACCGCCTCCCACTCC CCCCGCAACCCCGGGAACCGCCTCCCACCACCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1864		chr1	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(612): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA TCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGAC GGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGG GCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA19065.hp1 HG02698.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0170 a0001c0001t0007g0199 a0001c0001t0002g0170 a0001c0001t0007g0199	2	252	0.0079	619	c.139 others(638): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTG GCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCC GACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(612): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA TCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGAC GGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGG GCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp2 HG01517.hp2 others(11): Show HG00423.hp2 HG00609.hp2 HG01517.hp2 HG02155.hp1 HG02647.hp1 HG03834.hp2 NA18967.hp2 NA18986.hp1 NA18999.hp2 NA19074.hp1 NA19080.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 a0001c0001t0026 a0001c0001t0029	a0001c0001t0001g0097 a0001c0001t0002g0155 a0001c0001t0002g0168 others(11): Show a0001c0001t0001g0097 a0001c0001t0002g0155 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0174 a0001c0001t0002g0188 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0007g0192 a0001c0001t0007g0194 a0001c0001t0014g0223 a0001c0001t0026g0227 a0001c0001t0029g0179	14	252	0.0556	619	c.139 others(638): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTG GCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCC GACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(612): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA TCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGAC GGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGG GGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0218 a0001c0001t0021g0218	1	252	0.0040	619	c.139 others(638): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTG GCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGA CCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCC GACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(612): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA TCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGAC GGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGG GGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	252	0.0040	619	c.139 others(638): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTG GCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGA CCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCC GACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(612): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGAGGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA TCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGAC GGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGG GCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01952.hp2 others(1): Show HG01167.hp2 HG01169.hp1 HG01952.hp2 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0177 a0001c0001t0002g0208 others(1): Show a0001c0001t0002g0171 a0001c0001t0002g0177 a0001c0001t0002g0208 a0001c0001t0002g0222	4	252	0.0159	619	c.139 others(638): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGAGGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTG GCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCC GACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(612): Show ACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA TCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGAC GGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGG GCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	252	0.0040	619	c.139 others(638): Show c.139-18621_139-18620insTGGGCGGGGGGGCTGACCCCCCCCCA CCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ATCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGA CGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGG GGCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGC	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
QSOX2_chr9_136201333_136250812	136234723	G G	GGCTTGGG others(612): Show GGCTTGGGAGCAAGGCTGGTGGTCTCCACGAGGCCCCCCAGCTCCACTGC GCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGT CTCCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCC ACACCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCA CTGCGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGC TGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCG CGCCACACCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGC TCCACTGCGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCA AGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTC ATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCC CAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGG AGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAG CCTCATCGCGCCACACCCCA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0284 a0001c0001t0006g0284	1	392	0.0026	619	c.329 others(636): Show c.329-7850_329-7849insTGGGGTGTGGCGCGATGAGGCTGGGGCG GGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGCT GGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCT CGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGG GGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCA AGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGG GCCTCGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGG CTGGGGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCT CCCAAGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTG GGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGAT GAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCT TGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGA GCTGGGGGGCCTCGTGGAGACCACCAGCCTTGCTCCCAAGC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
RASA3_chr13_113972783_114137623	114010763	G G	GGAGGGGA others(612): Show GGAGGGGAAGGCGTGGGGAAGAGGGGAAGGCGTGGGGAGGAGGGGAAGGC ATGGGGAGGAGGGGGCCACATGGGGAGGAGCGGGCCGCGAGGGGAGGAGG GGGCCGCGTGGGGAGGAGGGGGCTGTGAGGAGAGGAGGGGGCCCCGTGGG GAGGAGGGGAAGGCTTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGAGCC GCGTGGGGAGGAGGGGGCCACATGGGGAGGAGGCGCCGCGTGGGGAGGAG GGGGCCGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCGTGG GGAGGAGGGGGGCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGCGCC GTGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGCCGCGTGGGGAGGA GGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGGAGGAGGGGGCCGCGT GGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGG GGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGG AGGAGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGC GTGGGGAGGAGGGGGGCCGC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0001 a0002c0004t0004g0001	1	67	0.0149	619	c.159 others(636): Show c.1590+407_1590+408insGCGGCCCCCCTCCTCCCCACGCGGCCCC CTCCTCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCTCCTCCCCACGC GGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCCTCCT CCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCACGCGGCC CCCTCCTCCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCC ACGCGGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCACACGGCGCCTC CTCCCCACGCGGCCCCCTCCTCCCCACGCGCCCCCCTCCTCCCCACGCCT TCCCCTCCTCCCCACGGGGCCCCCTCCTCTCCTCACGGCCCCCTCCTCCC CACGCGGCGCCTCCTCCCCATGTGGCCCCCTCCTCCCCACGCGGCTCCCT CCTCCCCTCGCGGCCCCCTCCTCCCCAAGCCTTCCCCTCCTCCCCACGGG GCCCCCTCCTCTCCTCACAGCCCCCTCCTCCCCACGCGGCCCCCTCCTCC CCTCGCGGCCCGCTCCTCCCCATGTGGCCCCCTCCTCCCCATGCCTTCCC CTCCTCCCCACGCCTTCCCCTCTTCCCCACGCCTTCCCCTC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23			chr13	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(612): Show GATGGGATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATG GGATGTGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGG ATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTA GGATGGGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGA TGTGGATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGG GATGTGGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG TGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGA TGGGATGGGATGGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGG GATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGAT GGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGA TGTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGGGATG GAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGA TGGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02922.hp2 HG02976.hp2 others(4): Show HG02647.hp1 HG02922.hp2 HG02976.hp2 HG03225.hp2 HG03516.hp1 HG03540.hp2 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0004c0008 a0001c0004 a0004c0008	a0001c0004t0001 a0004c0008t0002 a0001c0004t0001 a0004c0008t0002	a0001c0004t0001g0276 a0001c0004t0001g0277 a0001c0004t0001g0278 others(4): Show a0001c0004t0001g0276 a0001c0004t0001g0277 a0001c0004t0001g0278 a0001c0004t0001g0279 a0001c0004t0001g0280 a0001c0004t0001g0283 a0004c0008t0002g0284	7	308	0.0227	619	c.-8- others(636): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC ACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCATCCAC ATTTCATCCCACCCTATCCACATCCCATCCCATCCCATCCCATCCCATCC CATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCAT CCCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCATCCCA TCCCATCCACATCCCATCCCATCCCATCCCACTCTATCCACATCCCTTTC CATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACCCCAT CCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCT CATTCCACCCCATCCACATCCCATCACATCCCATCCACATCCCATTCCAT CCCATCCCATCTACATCCCATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(612): Show ATGTATACATACAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGTACATATATGTATATATTATATATACATATATATGTATATA TAATATATACATGTATATATTATACATGTATATATTAATATATAATATAT AGTATATATATACATGTATATATTATATATAAAGTATATATTATATATAC GTGTATACAATATATATACGTGTATATATATTATATACACGTATATATAA TGTATACAGGTATATATACATGTATATAATATATATGTATATATAATATA TTGTATACATGTATATATATACATGATATATACACATATATATCGTGTAT ATATACACATATATGTATATATATACATGATATATACATACATATATATC ATGTGTATATATATACATAATATACACGTATATATACATACATATATACA TGTATATATACACATATATACATACATATATATACATGTATATATACACA CATATATATGTGTATGTATATGTGTGTGTGTGTGTGTGTGTGTGTGTATA TATATATATATATATATATATATATATATATATATATATAATTTTACAAC TAACATTAGCCATTGAATAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0126 a0001c0001t0005g0126	1	170	0.0059	619	c.59- others(636): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATATATATATATATATATATATATACACA CACACACACACACACACACACATATACATACACATATATATGTGTGTATA TATACATGTATATATATGTATGTATATATGTGTATATATACATGTATATA TGTATGTATATATACGTGTATATTATGTATATATATACACATGATATATA TGTATGTATATATCATGTATATATATACATATATGTGTATATATACACGA TATATATGTGTATATATCATGTATATATATACATGTATACAATATATTAT ATATACATATATATTATATACATGTATATATACCTGTATACATTATATAT ACGTGTATATAATATATATACACGTATATATATTGTATACACGTATATAT AATATATACTTTATATATAATATATACATGTATATATATACTATATATTA TATATTAATATATACATGTATAATATATACATGTATATATTATATATACA TATATATGTATATATAATATATACATATATGTACATATAATATACATGTC TATATGTATATATATTATACATACATGTCTGTATGTATACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
SCAMP1_chr5_78355617_78485739	78430203	T T	TTATAAAT others(612): Show TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATT TATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAA ATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTA TTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACT GTATTTATTTATAAATACTG	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	332	0.0030	619	c.632 others(636): Show c.632+8246_632+8247insAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAA ATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTA TTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(612): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCCCCACCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCT CCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCACCC CTTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCTATCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCCTCCCCTC CCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCCTCCCTCCCCCCCCACCCCTTCCCCCTCCCC CTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0139 a0001c0001t0011g0139	1	150	0.0067	619	c.77- others(636): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCCCCACCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTT CCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCC CCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCTA TCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCCT CCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCC CCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCCCCCCACCCCTTCCCC CTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(612): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCCCCACCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCT CCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCACCC CTTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCTATCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCCTCCCCTC CCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCCTCCCTCCCCCCCCACCCCTTCCCCCTCCCC CTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0076 a0001c0001t0058g0076	1	158	0.0063	619	c.22+ others(636): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCCCCACCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTT CCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCC CCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCTA TCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCCT CCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCC CCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCCCCCCACCCCTTCCCC CTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLAIN1_chr13_77692687_77769229	77703948	T T	TAAAATAT others(612): Show TAAAATATATATACATATGTTTTATAAGTGTATATATACACATATAAAAT ATATATACATATGTTTTATAAGTGTATATATACACATAAAATATATATAC ATATGTTTTATATGTGTATATATACACATAAAATATATATACATATGTTT TATATGTGTATATATACACATATAAAATATATATACATATGTTTTATATG TGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTATA TATACACATATAAAATATATATACATATGTTTTATATGTGTATATATACA CATATAAAATATATATACATATGTTTTATATGTATATATACATATAAAAT ATATATACATATGTTTTATATGTATATATACATATAAAATATATATACAT ATGTTTTATATGTATATATACATATAAAATATATATACATATGTTTTATA TGTATATATATACATATAAAATATATATACATATAAAATATATACATATA AAATATATATACATATGTTTTATATGTATATATACATATAAAACATATAT ACATATGTTTTATATGTATATATACATATAAATATATATACATATGTTTT ATATGTATATATATACATAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18961.hp1 HG03098.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0175 a0001c0001t0001g0176	2	300	0.0067	619	c.626 others(636): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATAAAATATATATACATAT GTTTTATATGTGTATATATACACATAAAATATATATACATATGTTTTATA TGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTA TATATACACATATAAAATATATATACATATGTTTTATATGTGTATATATA CACATATAAAATATATATACATATGTTTTATATGTGTATATATACACATA TAAAATATATATACATATGTTTTATATGTATATATACATATAAAATATAT ATACATATGTTTTATATGTATATATACATATAAAATATATATACATATGT TTTATATGTATATATACATATAAAATATATATACATATGTTTTATATGTA TATATATACATATAAAATATATATACATATAAAATATATACATATAAAAT ATATATACATATGTTTTATATGTATATATACATATAAAACATATATACAT ATGTTTTATATGTATATATACATATAAATATATATACATATGTTTTATAT GTATATATATACATAGAAAATATATATACATATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77703948	T T	TAAAATAT others(612): Show TAAAATATATATACATATGTTTTATAAGTGTATATATACACATATAAAAT ATATATACATATGTTTTATAAGTGTATATATACACATAAAATATATATAC ATATGTTTTATATGTGTATATATACACATAAAATATATATACATATGTTT TATATGTGTATATATACACATATAAAATATATATACATATGTTTTATATG TGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTATA TATACACATATAAAATATATATACATATGTTTTATATGTGTATATATACA CATATAAAATATATATACATATGTTTTATATGTATATATACATATAAAAT ATATATACATATGTTTTATATGTATATATACATATAAAATATATATACAT ATGTTTTATATGTATATATATACATATAAAATATATATACATATAAAATA TATACATATAAAATATATATACATATGTTTTATATGTATATATACATATA AAACATATATACATATGTTTTATATGTATATATACATATAAAACATATAT ACATATGTTTTATATGTATATATACATATAAATATATATACATATGTTTT ATATGTATATATATACATAG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	300	0.0033	619	c.626 others(636): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATAAAATATATATACATAT GTTTTATATGTGTATATATACACATAAAATATATATACATATGTTTTATA TGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTA TATATACACATATAAAATATATATACATATGTTTTATATGTGTATATATA CACATATAAAATATATATACATATGTTTTATATGTGTATATATACACATA TAAAATATATATACATATGTTTTATATGTATATATACATATAAAATATAT ATACATATGTTTTATATGTATATATACATATAAAATATATATACATATGT TTTATATGTATATATATACATATAAAATATATATACATATAAAATATATA CATATAAAATATATATACATATGTTTTATATGTATATATACATATAAAAC ATATATACATATGTTTTATATGTATATATACATATAAAACATATATACAT ATGTTTTATATGTATATATACATATAAATATATATACATATGTTTTATAT GTATATATATACATAGAAAATATATATACATATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77703963	T T	TATGTTTT others(612): Show TATGTTTTATAAGTGTATATATACACATATAAAATATATATACATATGTT TTATAAGTGTATATATACACATAAAATATATATACATATGTTTTATATGT GTATATATACACATAAAATATATATACATATGTTTTATATGTGTATATAT ACACATATAAAATATATATACATATGTTTTATATGTGTATATATACACAT ATAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAAA TATATATACATATGTTTTATATGTGTATATATACACATATAAAATATATA TACATATGTTTTATATGTATATATACATATAAAATATATATACATATGTT TTATATGTATATATACATATAAAATATATATACATATGTTTTATATGTAT ATATATACATATAAAATATATATACATATAAAATATATACATATAAAATA TATATACATATGTTTTATATGTATATATACATATAAAACATATATACATA TGTTTTATATGTATATATACATATAAATATATATACATATGTTTTATATG TATATATATACATAGAAAATATATATACATATGTTTTATATGTATATATA TACATAGAAAATATATATAC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01934.hp1 HG02622.hp2 others(1): Show HG01928.hp2 HG01934.hp1 HG02622.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 others(1): Show a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227	4	300	0.0133	619	c.626 others(636): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATAAAATATATATACATAT GTTTTATATGTGTATATATACACATAAAATATATATACATATGTTTTATA TGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTA TATATACACATATAAAATATATATACATATGTTTTATATGTGTATATATA CACATATAAAATATATATACATATGTTTTATATGTGTATATATACACATA TAAAATATATATACATATGTTTTATATGTATATATACATATAAAATATAT ATACATATGTTTTATATGTATATATACATATAAAATATATATACATATGT TTTATATGTATATATATACATATAAAATATATATACATATAAAATATATA CATATAAAATATATATACATATGTTTTATATGTATATATACATATAAAAC ATATATACATATGTTTTATATGTATATATACATATAAATATATATACATA TGTTTTATATGTATATATATACATAGAAAATATATATACATATGTTTTAT ATGTATATATATACATAGAAAATATATATACATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(612): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAG GGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAG GAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGA AGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAG GAGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAA GAGTCCGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA20752.hp1 HG01106.hp2 NA20752.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0011 a0001c0001 a0011c0011	a0001c0001t0001 a0011c0011t0001 a0001c0001t0001 a0011c0011t0001	a0001c0001t0001g0247 a0011c0011t0001g0244 a0001c0001t0001g0247 a0011c0011t0001g0244	2	350	0.0057	619	c.624 others(634): Show c.624+347_624+348insTCCCTCCTCCTCCCGGACTCTTTCCTCTCC TCCTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTC TCCTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCC TCCCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCT CCTCCTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTC CTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCT CCTTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCT CCTTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCT CCTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCT CCTCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCC TCCCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTAT TCTCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCC TTCCTCCTCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC45A1_chr1_8313114_8349165	8322284	A A	ATGGATGG others(612): Show ATGGATGGATGGGCGGGTGGGTGGATGGATGAGTGGGTGAGTGGATGGAT GCATGGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGTGGATGGATGG GTGGATGGATGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTGCGTGGGT GGGTGGATGGATGGATGGATGAGTGGGTGAGTGGATGGATGCATGGATGG ATGGGTGGGTGGGTGAATGGATGGATGAGTGGGTGGATGGATGGGTGGAT GAATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGATGGATGGGTGGATGG ATGCATGGGTGGGTGGATGTATGGGTGGATGGATGCGTGGGTGGGTGGAT GGATGGGTGGATGGGTGGATGGATGGATGGATAGATGGGTGTGTGGATGG ATGGATGAGTGGGTGGATGGATGGGTGGATGGATGGGTAGGTGGGTGGAT GGATGGGTGGATGAGTGGATGGATGGATAGATGGGTGGGTGGATGGATGG ATGAGTGGGTGGAGGGATGGGTGGATGATGGATGGGTGGGTGGATGGATG GGTGGGTGGGTGGATGGGTGGGTGGATGGATGGGTGGGTGGGTGGATGGG TGGATGGATGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	388	0.0026	619	c.-24 others(636): Show c.-24-2011_-24-2010insGCGGGTGGGTGGATGGATGAGTGGGTGA GTGGATGGATGCATGGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGT GGATGGATGGGTGGATGGATGGGTGGGTGGGTGGATGGATGGGTGGGTGG GTGCGTGGGTGGGTGGATGGATGGATGGATGAGTGGGTGAGTGGATGGAT GCATGGATGGATGGGTGGGTGGGTGAATGGATGGATGAGTGGGTGGATGG ATGGGTGGATGAATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGATGGAT GGGTGGATGGATGCATGGGTGGGTGGATGTATGGGTGGATGGATGCGTGG GTGGGTGGATGGATGGGTGGATGGGTGGATGGATGGATGGATAGATGGGT GTGTGGATGGATGGATGAGTGGGTGGATGGATGGGTGGATGGATGGGTAG GTGGGTGGATGGATGGGTGGATGAGTGGATGGATGGATAGATGGGTGGGT GGATGGATGGATGAGTGGGTGGAGGGATGGGTGGATGATGGATGGGTGGG TGGATGGATGGGTGGGTGGGTGGATGGGTGGGTGGATGGATGGGTGGGTG GGTGGATGGGTGGATGGATGGGTGGGTGGGTGGATGGATGG	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8322288	A A	ATGGATGG others(612): Show ATGGATGGGCGGGTGGGTGGATGGATGAGTGGGTGAGTGGATGGATGCAT GGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGTGGATGGATGGGTGG ATGGATGGGTGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTGCGTGGGT GGGTGGATGGATGGATGGATGAGTGGGTGAGTGGATGGATGCATGGATGG ATGGGTGGGTGGGTGAATGGATGGATGAGTGGGTGGATGGATGGGTGGAT GAATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGATGGATGGGTGGATGG ATGCATGGGTGGGTGGATGTATGGGTGGATGGATGCGTGGGTGGGTGGAT GGATGGGTGGATGGGTGGATGGATGGATGGATAGATGGGTGTGTGGATGG ATGGATGAGTGGGTGGATGGATGGGTGGATGGATGGGTAGGTGGGTGGAT GGATGGGTGGATGAGTGGATGGATGGATAGATGGGTGGGTGGATGGATGG ATGAGTGGGTGGAGGGATGGGTGGATGATGGATGGGTGGGTGGATGGATG GGTGGGTGGGTGGATGGGTGGGTGGATGGATGGGTGGGTGGGTGGATGGG TGGATGGATGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG01891.hp2 others(17): Show HG01243.hp1 HG01884.hp2 HG01891.hp2 HG02109.hp1 HG02559.hp1 HG02809.hp1 HG02818.hp1 HG02922.hp2 HG02965.hp1 HG03139.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18944.hp1 NA19001.hp1 NA19063.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0006	a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0002c0006t0001	a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0002t0001g0229 others(17): Show a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0002t0001g0229 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0264 a0001c0002t0001g0266 a0001c0003t0001g0209 a0001c0003t0001g0265 a0001c0003t0002g0199 a0001c0003t0002g0202 a0001c0003t0002g0204 a0001c0003t0003g0267 a0002c0006t0001g0175 a0002c0006t0001g0207 a0002c0006t0001g0208 a0002c0006t0001g0210 a0002c0006t0001g0211 a0002c0006t0001g0212 a0002c0006t0001g0213	20	388	0.0516	619	c.-24 others(636): Show c.-24-2011_-24-2010insGCGGGTGGGTGGATGGATGAGTGGGTGA GTGGATGGATGCATGGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGT GGATGGATGGGTGGATGGATGGGTGGGTGGGTGGGTGGATGGATGGGTGG GTGGGTGCGTGGGTGGGTGGATGGATGGATGGATGAGTGGGTGAGTGGAT GGATGCATGGATGGATGGGTGGGTGGGTGAATGGATGGATGAGTGGGTGG ATGGATGGGTGGATGAATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGAT GGATGGGTGGATGGATGCATGGGTGGGTGGATGTATGGGTGGATGGATGC GTGGGTGGGTGGATGGATGGGTGGATGGGTGGATGGATGGATGGATAGAT GGGTGTGTGGATGGATGGATGAGTGGGTGGATGGATGGGTGGATGGATGG GTAGGTGGGTGGATGGATGGGTGGATGAGTGGATGGATGGATAGATGGGT GGGTGGATGGATGGATGAGTGGGTGGAGGGATGGGTGGATGATGGATGGG TGGGTGGATGGATGGGTGGGTGGGTGGATGGGTGGGTGGATGGATGGGTG GGTGGGTGGATGGGTGGATGGATGGGTGGGTGGGTGGATGG	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8322288	A A	ATGGATGG others(612): Show ATGGATGGGCGGGTGGGTGGATGGATGAGTGGGTGAGTGGATGGATGCAT GGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGTGGATGGATGGGTGG ATGGATGGGTGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTGCGTGGGT GGGTGGATGGATGGATGGATGAGTGGGTGAGTGGATGGATGCATGGATGG ATGGGTGGGTGGGTGAATGGATGGATGAGTGGGTGGATGGATGGGTGGAT GAATGGGTGGGTGGGTGTGTGGGTGGGTGGATGGATGGATGGGTGGATGG ATGCATGGGTGGGTGGATGTATGGGTGGATGGATGCGTGGGTGGGTGGAT GGATGGGTGGATGGGTGGATGGATGGATGGATAGATGGGTGTGTGGATGG ATGGATGAGTGGGTGGATGGATGGGTGGATGGATGGGTAGGTGGGTGGAT GGATGGGTGGATGAGTGGATGGATGGATAGATGGGTGGGTGGATGGATGG ATGAGTGGGTGGAGGGATGGGTGGATGATGGATGGGTGGGTGGATGGATG GGTGGGTGGGTGGATGGGTGGGTGGATGGATGGGTGGGTGGGTGGATGGG TGGATGGATGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0203 a0001c0003t0002g0203	1	388	0.0026	619	c.-24 others(636): Show c.-24-2011_-24-2010insGCGGGTGGGTGGATGGATGAGTGGGTGA GTGGATGGATGCATGGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGT GGATGGATGGGTGGATGGATGGGTGGGTGGGTGGGTGGATGGATGGGTGG GTGGGTGCGTGGGTGGGTGGATGGATGGATGGATGAGTGGGTGAGTGGAT GGATGCATGGATGGATGGGTGGGTGGGTGAATGGATGGATGAGTGGGTGG ATGGATGGGTGGATGAATGGGTGGGTGGGTGTGTGGGTGGGTGGATGGAT GGATGGGTGGATGGATGCATGGGTGGGTGGATGTATGGGTGGATGGATGC GTGGGTGGGTGGATGGATGGGTGGATGGGTGGATGGATGGATGGATAGAT GGGTGTGTGGATGGATGGATGAGTGGGTGGATGGATGGGTGGATGGATGG GTAGGTGGGTGGATGGATGGGTGGATGAGTGGATGGATGGATAGATGGGT GGGTGGATGGATGGATGAGTGGGTGGAGGGATGGGTGGATGATGGATGGG TGGGTGGATGGATGGGTGGGTGGGTGGATGGGTGGGTGGATGGATGGGTG GGTGGGTGGATGGGTGGATGGATGGGTGGGTGGGTGGATGG	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8322292	A A	ATGGATGG others(612): Show ATGGATGGGCGGGTGGGTGGATGGATGAGTGGGTGAGTGGATGGATGCAT GGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGTGGATGGATGGGTGG ATGGATGGGTGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTGCGTGGGT GGGTGGATGGATGGATGGATGAGTGGGTGAGTGGATGGATGCATGGATGG ATGGGTGGGTGGGTGAATGGATGGATGAGTGGGTGGATGGATGGGTGGAT GAATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGATGGATGGGTGGATGG ATGCATGGGTGGGTGGATGTATGGGTGGATGGATGCGTGGGTGGGTGGAT GGATGGGTGGATGGGTGGATGGATGGATGGATAGATGGGTGTGTGGATGG ATGGATGAGTGGGTGGATGGATGGGTGGATGGATGGGTAGGTGGGTGGAT GGATGGGTGGATGAGTGGATGGATGGATAGATGGGTGGGTGGATGGATGG ATGAGTGGGTGGAGGGATGGGTGGATGATGGATGGGTGGGTGGATGGATG GGTGGGTGGGTGGATGGGTGGGTGGATGGATGGGTGGGTGGGTGGATGGG TGGATGGATGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01255.hp1 HG01361.hp1 others(5): Show HG01192.hp2 HG01255.hp1 HG01361.hp1 HG02132.hp1 HG02683.hp2 HG04115.hp1 HG04228.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0007 a0001c0002 a0002c0007	a0001c0002t0001 a0002c0007t0001 a0001c0002t0001 a0002c0007t0001	a0001c0002t0001g0221 a0001c0002t0001g0239 a0001c0002t0001g0240 others(5): Show a0001c0002t0001g0221 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0262 a0002c0007t0001g0220 a0002c0007t0001g0260 a0002c0007t0001g0261 a0002c0007t0001g0263	8	388	0.0206	619	c.-24 others(636): Show c.-24-2007_-24-2006insGCGGGTGGGTGGATGGATGAGTGGGTGA GTGGATGGATGCATGGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGT GGATGGATGGGTGGATGGATGGGTGGGTGGGTGGGTGGATGGATGGGTGG GTGGGTGCGTGGGTGGGTGGATGGATGGATGGATGAGTGGGTGAGTGGAT GGATGCATGGATGGATGGGTGGGTGGGTGAATGGATGGATGAGTGGGTGG ATGGATGGGTGGATGAATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGAT GGATGGGTGGATGGATGCATGGGTGGGTGGATGTATGGGTGGATGGATGC GTGGGTGGGTGGATGGATGGGTGGATGGGTGGATGGATGGATGGATAGAT GGGTGTGTGGATGGATGGATGAGTGGGTGGATGGATGGGTGGATGGATGG GTAGGTGGGTGGATGGATGGGTGGATGAGTGGATGGATGGATAGATGGGT GGGTGGATGGATGGATGAGTGGGTGGAGGGATGGGTGGATGATGGATGGG TGGGTGGATGGATGGGTGGGTGGGTGGATGGGTGGGTGGATGGATGGGTG GGTGGGTGGATGGGTGGATGGATGGGTGGGTGGGTGGATGG	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8322292	A A	ATGGGCGG others(612): Show ATGGGCGGGTGGGTGGATGGATGAGTGGGTGAGTGGATGGATGCATGGAT GGATGGGTGGGTGGGTGGATGGATGAGTGGGTGGATGGATGGGTGGATGG ATGGGTGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTGCGTGGGTGGGT GGATGGATGGATGGATGAGTGGGTGAGTGGATGGATGCATGGATGGATGG GTGGGTGGGTGAATGGATGGATGAGTGGGTGGATGGATGGGTGGATGAAT GGGTGGGTGGGTGCGTGGGTGGGTGGATGGATGGATGGGTGGATGGATGC ATGGGTGGGTGGATGTATGGGTGGATGGATGCGTGGGTGGGTGGATGGAT GGGTGGATGGGTGGATGGATGGATGGATAGATGGGTGTGTGGATGGATGG ATGAGTGGGTGGATGGATGGGTGGATGGATGGGTAGGTGGGTGGATGGAT GGGTGGATGAGTGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGA GTGGGTGGAGGGATGGGTGGATGATGGATGGGTGGGTGGATGGATGGGTG GGTGGGTGGATGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTGGATGGG TGGATGGATGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03195.hp1 HG02965.hp2 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0004 a0002c0006t0004 a0001c0002t0004 a0002c0006t0004	a0001c0002t0004g0278 a0002c0006t0004g0282 a0001c0002t0004g0278 a0002c0006t0004g0282	2	388	0.0052	619	c.-24 others(636): Show c.-24-2011_-24-2010insGCGGGTGGGTGGATGGATGAGTGGGTGA GTGGATGGATGCATGGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGT GGATGGATGGGTGGATGGATGGGTGGGTGGGTGGGTGGATGGATGGGTGG GTGGGTGCGTGGGTGGGTGGATGGATGGATGGATGAGTGGGTGAGTGGAT GGATGCATGGATGGATGGGTGGGTGGGTGAATGGATGGATGAGTGGGTGG ATGGATGGGTGGATGAATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGAT GGATGGGTGGATGGATGCATGGGTGGGTGGATGTATGGGTGGATGGATGC GTGGGTGGGTGGATGGATGGGTGGATGGGTGGATGGATGGATGGATAGAT GGGTGTGTGGATGGATGGATGAGTGGGTGGATGGATGGGTGGATGGATGG GTAGGTGGGTGGATGGATGGGTGGATGAGTGGATGGATGGATAGATGGGT GGGTGGATGGATGGATGAGTGGGTGGAGGGATGGGTGGATGATGGATGGG TGGGTGGATGGATGGGTGGGTGGGTGGATGGGTGGGTGGGTGGATGGATG GGTGGGTGGGTGGATGGGTGGATGGATGGGTGGGTGGGTGG	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(612): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTGATAATATATAATA TATATTATATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTACATATTATAATATATAATATATATTATATATTATAATATAT AATATATATTACATATTATAATATATAATATATTATATTTTATAATATAT ATAAAATATAATATATTATATTTTATAATATATAATATATTATATTTTAT AATATATAATATATTATATTTTATAATATATAATATATTATATTTTATAA TATATTATATATTATATTTTATAATATATAATATATTATATTTTATAATA TATAATATATTATATTTTATATATATTATAAAATATAATATATTATATTT TATAATATATAATATATCTT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19010.hp1 NA18944.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0072 a0001c0001t0001g0009 a0001c0001t0001g0072	2	340	0.0059	619	c.17 others(638): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATAATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTATATTTTATATATAT TATAAAATATAATATATTATATATTATAATATGTAATATATATTATATAT TATAATATATAATATATATTATATATTATAATATGTAATATATATTATAT ATTATAATATATAATATATATTATATATTATAATATATAATATATATTAT ATATTATCAAATATAATATATATTACATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATATTACATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT ATTATAATATATAATATATTATATATTATAATATATAATATATATTATAT ATTATAATATATAATATATATTATATATTATAATATAAAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(612): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATATTATATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTACATATTATAATATATAATATATATTATATATTATAATATAT AATATATATTACATATTATAATATATAATATATTATATTTTATAATATAT ATAAAATATAATATATTATATTTTATAATATATAATATATTATATTTTAT AATATATAATATATTATATATTATAATATATAATATATTATATTTTATAA TATATAATATATTATATTTTATAATATATAATATATTATATTTTATAATA TATAATATATTATATTTTATATATATTATAAAATATAATATATTATATTT TATAATATATAATATATCTT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	340	0.0029	619	c.17 others(638): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAATATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTATATTTTATATATAT TATAAAATATAATATATTATATATTATAATATGTAATATATATTATATAT TATAATATATAATATATATTATATATTATAATATGTAATATATATTATAT ATTATAATATATAATATATATTATATATTATAATATATAATATATATTAT ATATTATAAAATATAATATATATTACATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATATTACATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT ATTATAATATATAATATATTATATATTATAATATATAATATATATTATAT ATTATAATATATAATATATATTATATATTATAATATAAAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(612): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATATTATATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTACATATTATAATATATAATATATATTATATATTATAATATAT AATATATATTACATATTATAATATATAATATATTATATTTTATAATATAT ATAAAATATAATATATTATATTTTATAATATATAATATATTATATTTTAT AATATATAATATATTATATTTTATAATATATAATATATTATATTTTATAA TATATAATATATTATATTTTATAATATATAATATATTATATTTTATAATA TATAATATATTATATTTTATATATATTATAAAATATAATATATTATATTT TATAATATATAATATATCTT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA19002.hp2 NA19084.hp1 NA18954.hp1 NA19002.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0074	3	340	0.0088	619	c.17 others(638): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTATATTTTATATATAT TATAAAATATAATATATTATATATTATAATATGTAATATATATTATATAT TATAATATATAATATATATTATATATTATAATATGTAATATATATTATAT ATTATAATATATAATATATATTATATATTATAATATATAATATATATTAT ATATTATAAAATATAATATATATTACATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATATTACATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT ATTATAATATATAATATATTATATATTATAATATATAATATATATTATAT ATTATAATATATAATATATATTATATATTATAATATAAAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(612): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTATTATATATTATATTTTATAATATATAATA TATATTATATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTACATATTATAATATATAATATATATTATATATTATAATATAT AATATATATTACATATTATAATATATAATATATTATATTTTATAATATAT ATAAAATATAATATATTATAGTTTATAATATATAATATATTATATTTTAT AATATATAATATATTATATTTTATAATATATAATATATTATATTTTATAA TATATAATATATTATATTTTATAATATATAATATATTATATTTTATAATA TATAATATATTATATTTTATATATATTATAAAATATAATATATTATATTT TATAATATATAATATATCTT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	340	0.0029	619	c.17 others(638): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAACTATAATATATTATATTTTATATATAT TATAAAATATAATATATTATATATTATAATATGTAATATATATTATATAT TATAATATATAATATATATTATATATTATAATATGTAATATATATTATAT ATTATAATATATAATATATATTATATATTATAATATATAATATATATTAT ATATTATAAAATATAATATATAATACATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATATTACATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT ATTATAATATATAATATATTATATATTATAATATATAATATATATTATAT ATTATAATATATAATATATATTATATATTATAATATAAAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(612): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTCGGCCTCCCAA AGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGC GTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCA GGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCGACATCGT GTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAAA AAAAAAAAAAAAAACAAAGTGCTGGGATTACAGGCATGAGTCACTGTGCC TGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGC CAAGGCTGGCACGCAGTTGT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	356	0.0028	619	c.245 others(636): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTCGGCCTCCCAAAGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGG AGTTCGAGACCAGCGTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAA TACAAAAATTAGCCGGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTC AGGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAG TGAGCCGACATCGTGTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTC CATCTCAAAAAAAAAAAAAAAAAAAAAACAAAGTGCTGGGATTACAGGCA TGAGTCACTGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGG TCTCGTTCTGTTGCCAAGGCTGGCACGCAGTTGTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(612): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGC GTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCA GGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCGACATCGT GTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAAA AAAAAAAAAAAAAACAAAGTGCTGGGATTACAGGCATGAGTCACTGTGCC TGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGC CAAGGCTGGCACGCAGTTGT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG01074.hp2 others(17): Show HG00642.hp2 HG00735.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01168.hp1 HG01255.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01517.hp1 HG01884.hp1 HG02486.hp2 HG03688.hp1 HG03834.hp2 HG04184.hp2 HG06807.hp1 NA19080.hp2 NA20752.hp1 NA20805.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0001c0021 a0013c0020 a0001c0001 a0001c0021 a0013c0020	a0001c0001t0001 a0001c0001t0006 a0001c0021t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0021t0001 a0013c0020t0001	a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0061 others(17): Show a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0006g0070 a0001c0021t0001g0065 a0013c0020t0001g0073	20	356	0.0562	619	c.245 others(636): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGG AGTTCGAGACCAGCGTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAA TACAAAAATTAGCCGGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTC AGGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAG TGAGCCGACATCGTGTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTC CATCTCAAAAAAAAAAAAAAAAAAAAAACAAAGTGCTGGGATTACAGGCA TGAGTCACTGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGG TCTCGTTCTGTTGCCAAGGCTGGCACGCAGTTGTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(612): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGC GTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCA GGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCGACATCGT GTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAAA AAAAAACAAAAAAACAAAGTGCTGGGATTACAGGCATGAGTCACTGTGCC TGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGC CAAGGCTGGCACGCAGTTGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp1 HG01123.hp1 others(2): Show HG00642.hp1 HG01074.hp1 HG01123.hp1 HG01934.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0078 others(2): Show a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0085	5	356	0.0140	619	c.245 others(636): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGG AGTTCGAGACCAGCGTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAA TACAAAAATTAGCCGGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTC AGGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAG TGAGCCGACATCGTGTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTC CATCTCAAAAAAAAAAAAAACAAAAAAACAAAGTGCTGGGATTACAGGCA TGAGTCACTGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGG TCTCGTTCTGTTGCCAAGGCTGGCACGCAGTTGTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(612): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAGGAAAGGAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGG AAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAA AGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAGG GAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAA AGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAGG GAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAA AGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0082 a0001c0001t0079g0082	1	322	0.0031	619	c.597 others(636): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC CCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTC CCTCCCTCCTTTCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCC TCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTC CCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
SUFU_chr10_102498972_102638535	102637258	A A	ATATATAT others(612): Show ATATATATAATATATATATTATATATTATATAACTATATATTATATATAA ATATATATATTATATATTATAATACTATATATTATATATAATATATATAT TATATATTATATAACTATATATTATATATAATATAATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAAACTATAT TATATATAATATATTATATATTATATAACTATATATTATATATAATAATT ATATATTATATTTATATACTATATATTATATATAATATATATATTATATA TTATATAACTATATTATTATATATAATATATATATTATATATTATATAAC TATATATTTATATAATAATATATATATTATATATTATAACTATATATTAT ATATAATATATATATTATATATTATATAACTATATATTATATATAATATA TATATTATATATTAATAACTATATTTTATATATAATATATTATATATTAT ATAACTATATATTATATATAATATATATATATATTATATAACTATATATT ATATATAATATATTATATATATATAACTATATATTATATATAATATATTA TATATTATATAACTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	268	0.0037	619	c.71 others(630): Show c.7103_*7104insTATATATAATATATATATTATATATTATATAACT ATATATTATATATAAATATATATATTATATATTATAATACTATATATTAT ATATAATATATATATTATATATTATATAACTATATATTATATATAATATA ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAAACTATATTATATATAATATATTATATATTATATAACTATATA TTATATATAATAATTATATATTATATTTATATACTATATATTATATATAA TATATATATTATATATTATATAACTATATTATTATATATAATATATATAT TATATATTATATAACTATATATTTATATAATAATATATATATTATATATT ATAACTATATATTATATATAATATATATATTATATATTATATAACTATAT ATTATATATAATATATATATTATATATTAATAACTATATTTTATATATAA TATATTATATATTATATAACTATATATTATATATAATATATATATATATT ATATAACTATATATTATATATAATATATTATATATATATAACTATATATT ATATATAATATATTATATATTATATAACTATATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3724		chr10	TogoVar
THBS2_chr6_169210785_169258846	169242751	T T	TTCCCACC others(612): Show TTCCCACCACTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACC TTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCTTCCCACTG CTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACATTCCCACCTT CCCACCACTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTT CCCACATTCCCACCTTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTC CCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTC CCACATTCCCACCTTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCC CACCTTCCCACCACTCCTACCTTCCTACCTTCCCACCGCTCCCACATTCT CACCTTCCCACCTTTCCACCTTCCCACCACTCCTACCTTCCCACCTTCCC ACATTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCAC CGCTCCCACCTTCCCATCACTCCCACCTTCCCACCGCTCCCACCTTCCCA CCTTCCCACCACTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCA CCTTCCCACCTTCCCACCAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp2 HG01109.hp1 others(6): Show HG00408.hp1 HG00609.hp2 HG01109.hp1 HG01261.hp2 HG02165.hp1 NA18956.hp2 NA18964.hp2 NA18974.hp1 NA18985.hp2	a0001 a0001	a0001c0004 a0001c0008 a0001c0013 a0001c0004 a0001c0008 a0001c0013	a0001c0004t0004 a0001c0004t0030 a0001c0008t0006 others(1): Show a0001c0004t0004 a0001c0004t0030 a0001c0008t0006 a0001c0013t0002	a0001c0004t0004g0246 a0001c0004t0004g0252 a0001c0004t0004g0257 others(5): Show a0001c0004t0004g0246 a0001c0004t0004g0252 a0001c0004t0004g0257 a0001c0004t0004g0296 a0001c0004t0030g0251 a0001c0008t0006g0254 a0001c0008t0006g0258 a0001c0013t0002g0028	9	396	0.0227	619	c.695 others(634): Show c.695-794_695-793insGTGGTGGGAAGGTGGGAAGGTGGGAAGGTG GGAGCGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTG GGAGCGGTGGGAAGGTGGGAGTGATGGGAAGGTGGGAGCGGTGGGAAGGT GGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGG GAAGGTAGGAGTGGTGGGAAGGTGGAAAGGTGGGAAGGTGAGAATGTGGG AGCGGTGGGAAGGTAGGAAGGTAGGAGTGGTGGGAAGGTGGGAAGGTGGG AGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGA GCGGTGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGA GCGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAA GGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAA TGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCAGTGGGAAG GTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAAGG TGGGAAGGTGGGAGTGGTGGGAAGGTGGGAGTGGTGGGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
TNFSF13B_chr13_108264718_108313478	108278588	T T	TCTTCCTC others(612): Show TCTTCCTCCTCCTCTGCTCCTGTCCTCCTCTTCTTCCTCCTCCCCTTTTC CTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCTGCTCCTCCTC TTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCCTCCTCCTCTT CTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCCTCCTTCTCCTCTCCCTC CTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCCTCCTCCTCCTGCTCTTC CTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCC CCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCTCCGCTTCTCTTTCTCCT CCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCCCTTCTCTTCC TCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCCCCTCCTCTCCTCCTC CCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCACTT CTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCTCCTCCTCCTC CCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCTCCTCTTCCTCCTCCTC CCCTTCTCTTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	384	0.0026	619	c.424 others(636): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCCTC TTCTTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCT CCTCTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCT CCTTTCCTCCTCCTCCTCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCC TCCTCCTTCTCCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCT TCCTCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCC CCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCT CCTCCGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCC TCCTCCTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCT CCTCCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTC CCCTTCCTCCTCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCT CCTCCCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCC TCCTCCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TOX_chr8_58800412_59124147	59092264	T T	TATATATA others(612): Show TATATATATTATATATTATATATACATTATATATATTATATATTATATAT ACATTATATATATTATATATTATATATACATTATATATATTATATATTAT ATATACATTATATATATTATATATTATATATACATTATATATATTATATA TTATATATACATTATATATATTATATATTATATATACATTATATATATTA TATATTATATATACATTATATATATTATATATTATATATACATTATATAT ATTATATATTATATATACATTATATATATTATATATTATATATACATTAT ATATATTATATATTATATATACATTATATATATTATATATTATATATACA TTATATATATTATATATTATATATACATTATATATATTATATATTATATA TACATTATATATATTATATATTATATATACATTATATATATTATATATTA TATATACATTATATATATTATATATTATATATACATTATATATATTATAT ATTATATATACATTATATATATTATATATTATATATACATTATATATATT ATATATTATATATACATTATATATATTATATATTATATATACATTATATA TATTATATATTATATATACA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0128 a0001c0001t0005g0128	1	224	0.0045	619	c.102 others(638): Show c.102+26621_102+26622insTGTATATATAATATATAATATATATA ATGTATATATAATATATAATATATATAATGTATATATAATATATAATATA TATAATGTATATATAATATATAATATATATAATGTATATATAATATATAA TATATATAATGTATATATAATATATAATATATATAATGTATATATAATAT ATAATATATATAATGTATATATAATATATAATATATATAATGTATATATA ATATATAATATATATAATGTATATATAATATATAATATATATAATGTATA TATAATATATAATATATATAATGTATATATAATATATAATATATATAATG TATATATAATATATAATATATATAATGTATATATAATATATAATATATAT AATGTATATATAATATATAATATATATAATGTATATATAATATATAATAT ATATAATGTATATATAATATATAATATATATAATGTATATATAATATATA ATATATATAATGTATATATAATATATAATATATATAATGTATATATAATA TATAATATATATAATGTATATATAATATATAATATATATAATGTATATAT AATATATAATATATATAATGTATATATAATATATAATATATAT	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TRAF6_chr11_36478769_36515272	36507099	G G	GTGTATAT others(612): Show GTGTATATACGTATATATACATGTATTATACATACATAAATGTATATACG TATATATACATGTATTATACATAATGTATATACGTATATATACATGTATT ATACATACATAAATGTATATACGTATATATACATGTATTATACATACATA AATGTATATACGTATATATACATGTATTATACATACATAAATGTATATAC GTATATATACATGTATTATACATACATAAATGTATATACGTATATATACA TGTATTATACATACATAAATGTATATACGTATATATACATGTATTATACA TACATAAATGTATATACGTATATATACATGTATTATACATACATAAATGT ATATACGTATATATACATGTATTATACATACATAAATGTATATACGTATA TATACATGTATTATACATACATAAATGTATATACGTATATATACATGTAT TATACATACATAAATGTATATACGTATATATACATGTATTATACATACAT AAATGTATATACGTATATATACATGTATTATACATACATAAATGTATATA CGTATATATACATGTATTATACATACATAAATGTATATACGTATATATAC ATGTATTATACATACATAAA	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0251 a0001c0001t0004g0251	1	388	0.0026	619	c.-23 others(636): Show c.-23+2948_-23+2949insTTTATGTATGTATAATACATGTATATAT ACGTATATACATTTATGTATGTATAATACATGTATATATACGTATATACA TTTATGTATGTATAATACATGTATATATACGTATATACATTTATGTATGT ATAATACATGTATATATACGTATATACATTTATGTATGTATAATACATGT ATATATACGTATATACATTTATGTATGTATAATACATGTATATATACGTA TATACATTTATGTATGTATAATACATGTATATATACGTATATACATTTAT GTATGTATAATACATGTATATATACGTATATACATTTATGTATGTATAAT ACATGTATATATACGTATATACATTTATGTATGTATAATACATGTATATA TACGTATATACATTTATGTATGTATAATACATGTATATATACGTATATAC ATTTATGTATGTATAATACATGTATATATACGTATATACATTTATGTATG TATAATACATGTATATATACGTATATACATTTATGTATGTATAATACATG TATATATACGTATATACATTATGTATAATACATGTATATATACGTATATA CATTTATGTATGTATAATACATGTATATATACGTATATACA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar

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Search Results (Total: 10000 hits)