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
IL18R1_chr2_102350796_102403776	102352800	T T	TAATATAA others(1046): Show TAATATAATATGTATTTTATATATTATATTATATAAAATATAGTATATTA TATATAATATAATAAATAATATAATATATAATATATAATATAATAAATAA TATAATATATAATATAATATATAATGAATAATATAATATATAATATATAA TATATAATATAATATATAATATAATATATAATATAATATATAATATAATA TATAATATATAATATATAATATAATATATAATATATAATATAATATATAA TGTAATATATAATATATAATATAATATATAATATATAATATATAATATAT AATATAATATATAATATACAATACATAATATATAATGTATAATATAATAT ATAATATAATATAAAATATATAATATATAATATATAATATTATATATTTT ATATATGCATTTCTTCTCTCAAGGCTCTCTTCTTCCCCCATTTTCCCACT GGCCACCCATGCAGGTAGAAGTAATGAGTAATGCTCTCAAACACTCTTTT CATATTACAAATGTACTCAAGAACCTGCAGGGACTCCTGTTGTTTGTGAG CTCAACAATGTGCCACATCTGGCCACAAGCTCTTCACCTCTTCTTTCTCA GTCCATCCACCTAAGTTCTAGTTACACTTCTCCTCAGCCAAACCCAGATG CTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTCAATGTGTGACAACATA CTAATCTGGAATGGTTTTCTACTTCCCTCTGTCAATGCATGTCCTCTGAC CTTTCCTCAACCAAAATAAATGAAACCCAACAACACCAAACTTCACTCTT CACTTAGGAAAGTTCATGACTGACTAAGGTACTGTCTATAGTCTCATGCA ACTTATCTTGCATTTGCCCCATCAAAATCCTCTCTTCACCACCACTCCAT CCAGTGGCCCTGGGTGGCTGATCATCATGGAATCCATTGCACCCTTGTCC TCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCATATATATTATATATGA TATATATTTTATATATTATTTTATATGTGATATATATTTTATATATCTAT ACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02965.hp1 HG02970.hp1 others(3): Show HG02572.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03139.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0019 a0001c0003t0007 a0001c0001t0019 a0001c0003t0007	a0001c0001t0019g0075 a0001c0003t0007g0190 a0001c0003t0007g0191 others(3): Show a0001c0001t0019g0075 a0001c0003t0007g0190 a0001c0003t0007g0191 a0001c0003t0007g0192 a0001c0003t0007g0193 a0001c0003t0007g0194	6	366	0.0164	1053	c.-36 others(1064): Show c.-3629_-3628insAATATAATATGTATTTTATATATTATATTATATA AAATATAGTATATTATATATAATATAATAAATAATATAATATATAATATA TAATATAATAAATAATATAATATATAATATAATATATAATGAATAATATA ATATATAATATATAATATATAATATAATATATAATATAATATATAATATA ATATATAATATAATATATAATATATAATATATAATATAATATATAATATA TAATATAATATATAATGTAATATATAATATATAATATAATATATAATATA TAATATATAATATATAATATAATATATAATATACAATACATAATATATAA TGTATAATATAATATATAATATAATATAAAATATATAATATATAATATAT AATATTATATATTTTATATATGCATTTCTTCTCTCAAGGCTCTCTTCTTC CCCCATTTTCCCACTGGCCACCCATGCAGGTAGAAGTAATGAGTAATGCT CTCAAACACTCTTTTCATATTACAAATGTACTCAAGAACCTGCAGGGACT CCTGTTGTTTGTGAGCTCAACAATGTGCCACATCTGGCCACAAGCTCTTC ACCTCTTCTTTCTCAGTCCATCCACCTAAGTTCTAGTTACACTTCTCCTC AGCCAAACCCAGATGCTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTCA ATGTGTGACAACATACTAATCTGGAATGGTTTTCTACTTCCCTCTGTCAA TGCATGTCCTCTGACCTTTCCTCAACCAAAATAAATGAAACCCAACAACA CCAAACTTCACTCTTCACTTAGGAAAGTTCATGACTGACTAAGGTACTGT CTATAGTCTCATGCAACTTATCTTGCATTTGCCCCATCAAAATCCTCTCT TCACCACCACTCCATCCAGTGGCCCTGGGTGGCTGATCATCATGGAATCC ATTGCACCCTTGTCCTCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCAT ATATATTATATATGATATATATTTTATATATTATTTTATATGTGATATAT ATTTTATATATCTATACAA	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		2995		chr2	TogoVar
IL18R1_chr2_102350796_102403776	102352800	T T	TAATATAA others(1046): Show TAATATAATATGTATTTTATATATTATATTATATAAAATATAGTATATTA TATATAATATAATAAATAATATAATATATAATATATAATATAATAAATAA TATAATATATAATATAATATATAATGAATAATATAATATATAATATATAA TATATAATATAATATATAATATAATATATAATATAATATATAATATATAA TATAATATATAATATATAATATAATATATAATATATAATATAATATATAA TGTAATATATAATATATAATATAATATATAATATATAATATATAATATAT AATATAATATATAATATACAATACATAATATATAATGTATAATATAATAT ATAATATAATATAAAATATATAATATATAATATATAATATTATATATTTT ATATATGCATTTCTTCTCTCAAGGCTCTCTTCTTCCCCCATTTTCCCACT GGCCACCCATGCAGGTAGAAGTAATGAGTAATGCTCTCAAACACTCTTTT CATATTACAAATGTACTCAAGAACCTGCAGGGACTCCTGTTGTTTGTGAG CTCAACAATGTGCCACATCTGGCCACAAGCTCTTCACCTCTTCTTTCTCA GTCCATCCACCTAAGTTCTAGTTACACTTCTCCTCAGCCAAACCCAGATG CTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTCAATGTGTGACAACATA CTAATCTGGAATGGTTTTCTACTTCCCTCTGTCAATGCATGTCCTCTGAC CTTTCCTCAACCAAAATAAATGAAACCCAACAACACCAAACTTCACTCTT CACTTAGGAAAGTTCATGACTGACTAAGGTACTGTCTATAGTCTCATGCA ACTTATCTTGCATTTGCCCCATCAAAATCCTCTCTTCACCACCACTCCAT CCAGTGGCCCTGGGTGGCTGATCATCATGGAATCCATTGCACCCTTGTCC TCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCATATATATTATATATGA TATATATTTTATATATTATTTTATATGTGATATATATTTTATATATCTAT ACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp2 HG02809.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0007 a0001c0003 a0004c0007	a0001c0003t0007 a0004c0007t0019 a0001c0003t0007 a0004c0007t0019	a0001c0003t0007g0043 a0001c0003t0007g0189 a0004c0007t0019g0083 a0001c0003t0007g0043 a0001c0003t0007g0189 a0004c0007t0019g0083	3	366	0.0082	1053	c.-36 others(1064): Show c.-3629_-3628insAATATAATATGTATTTTATATATTATATTATATA AAATATAGTATATTATATATAATATAATAAATAATATAATATATAATATA TAATATAATAAATAATATAATATATAATATAATATATAATGAATAATATA ATATATAATATATAATATATAATATAATATATAATATAATATATAATATA ATATATAATATATAATATAATATATAATATATAATATAATATATAATATA TAATATAATATATAATGTAATATATAATATATAATATAATATATAATATA TAATATATAATATATAATATAATATATAATATACAATACATAATATATAA TGTATAATATAATATATAATATAATATAAAATATATAATATATAATATAT AATATTATATATTTTATATATGCATTTCTTCTCTCAAGGCTCTCTTCTTC CCCCATTTTCCCACTGGCCACCCATGCAGGTAGAAGTAATGAGTAATGCT CTCAAACACTCTTTTCATATTACAAATGTACTCAAGAACCTGCAGGGACT CCTGTTGTTTGTGAGCTCAACAATGTGCCACATCTGGCCACAAGCTCTTC ACCTCTTCTTTCTCAGTCCATCCACCTAAGTTCTAGTTACACTTCTCCTC AGCCAAACCCAGATGCTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTCA ATGTGTGACAACATACTAATCTGGAATGGTTTTCTACTTCCCTCTGTCAA TGCATGTCCTCTGACCTTTCCTCAACCAAAATAAATGAAACCCAACAACA CCAAACTTCACTCTTCACTTAGGAAAGTTCATGACTGACTAAGGTACTGT CTATAGTCTCATGCAACTTATCTTGCATTTGCCCCATCAAAATCCTCTCT TCACCACCACTCCATCCAGTGGCCCTGGGTGGCTGATCATCATGGAATCC ATTGCACCCTTGTCCTCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCAT ATATATTATATATGATATATATTTTATATATTATTTTATATGTGATATAT ATTTTATATATCTATACAA	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		2995		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352800	T T	TAATATAA others(1046): Show TAATATAATATGTATTTTATATATTATATTATATAAAATATAGTATATTA TATATAATATAATAAATAATATAATATATAATATATAATATAATAAATAA TATAATATATAATATAATATATAATGAATAATATAATATATAATATATAA TATATAATATAATATATAATATAATATATAATATAATATATAATATAATA TATAATATATAATATATAATATAATATATAATATATAATATAATATATAA TGTAATATATAATATATAATATAATATATAATATATAATATATAATATAT AATATAATATATAATATACAATACATAATATATAATGTATAATATAATAT ATAATATAATATAAAATATATAATATATAATATATAATATTATATATTTT ATATATGCATTTCTTCTCTCAAGGCTCTCTTCTTCCCCCATTTTCCCACT GGCCACCCATGCAGGTAGAAGTAATGAGTAATGCTCTCAAACACTCTTTT CATATTACAAATGTACTCAAGAACCTGCAGGGACTCCTGTTGTTTGTGAG CTCAACAATGTGCCACATCTGGCCACAAGCTCTTCACCTCTTCTTTCTCA GTCCATCCACCTAAGTTCTAGTTACACTTCTCCTCAGCCAAACCCAGATG CTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTCAATGTGTGACAACATA CTAATCTGGAATGGTTTTCTACTTCCCTCTGTCAATGCATGTCCTCTGAC CTTTCCTCAACCAAAATAAATGAAACCCAACAACACCAAACTTCACTCTT CACTTAGGAAAGTTCATGACTGACTAAGGTACTGTCTATAGTCTCATGCA ACTTATCTTGCATTTGCCCCATCAAAATCCTCTCTTCACCACCACTCCAT CCAGTGGCCCTGGGTGGCTGATCATCATGGAATCCATTGCACCCTTGTCC TCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCATATATATTATATATGA TATATATTTTATATATTATTTTATATGTGATATATATTTTATATATCTAT ACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02965.hp2 HG03139.hp1 others(1): Show HG02572.hp1 HG02965.hp2 HG03139.hp1 HG03471.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0051 a0002c0005t0003g0052 a0002c0005t0003g0053 others(1): Show a0002c0005t0003g0051 a0002c0005t0003g0052 a0002c0005t0003g0053 a0002c0005t0003g0054	4	348	0.0115	1053	c.87 others(1062): Show c.879_*880insAATATAATATGTATTTTATATATTATATTATATAAA ATATAGTATATTATATATAATATAATAAATAATATAATATATAATATATA ATATAATAAATAATATAATATATAATATAATATATAATGAATAATATAAT ATATAATATATAATATATAATATAATATATAATATAATATATAATATAAT ATATAATATAATATATAATATATAATATATAATATAATATATAATATATA ATATAATATATAATGTAATATATAATATATAATATAATATATAATATATA ATATATAATATATAATATAATATATAATATACAATACATAATATATAATG TATAATATAATATATAATATAATATAAAATATATAATATATAATATATAA TATTATATATTTTATATATGCATTTCTTCTCTCAAGGCTCTCTTCTTCCC CCATTTTCCCACTGGCCACCCATGCAGGTAGAAGTAATGAGTAATGCTCT CAAACACTCTTTTCATATTACAAATGTACTCAAGAACCTGCAGGGACTCC TGTTGTTTGTGAGCTCAACAATGTGCCACATCTGGCCACAAGCTCTTCAC CTCTTCTTTCTCAGTCCATCCACCTAAGTTCTAGTTACACTTCTCCTCAG CCAAACCCAGATGCTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTCAAT GTGTGACAACATACTAATCTGGAATGGTTTTCTACTTCCCTCTGTCAATG CATGTCCTCTGACCTTTCCTCAACCAAAATAAATGAAACCCAACAACACC AAACTTCACTCTTCACTTAGGAAAGTTCATGACTGACTAAGGTACTGTCT ATAGTCTCATGCAACTTATCTTGCATTTGCCCCATCAAAATCCTCTCTTC ACCACCACTCCATCCAGTGGCCCTGGGTGGCTGATCATCATGGAATCCAT TGCACCCTTGTCCTCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCATAT ATATTATATATGATATATATTTTATATATTATTTTATATGTGATATATAT TTTATATATCTATACAA	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding		764		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352800	T T	TAATATAA others(1046): Show TAATATAATATGTATTTTATATATTATATTATATAAAATATAGTATATTA TATATAATATAATAAATAATATAATATATAATATATAATATAATAAATAA TATAATATATAATATAATATATAATGAATAATATAATATATAATATATAA TATATAATATAATATATAATATAATATATAATATAATATATAATATATAA TATAATATATAATATATAATATAATATATAATATATAATATAATATATAA TGTAATATATAATATATAATATAATATATAATATATAATATATAATATAT AATATAATATATAATATACAATACATAATATATAATGTATAATATAATAT ATAATATAATATAAAATATATAATATATAATATATAATATTATATATTTT ATATATGCATTTCTTCTCTCAAGGCTCTCTTCTTCCCCCATTTTCCCACT GGCCACCCATGCAGGTAGAAGTAATGAGTAATGCTCTCAAACACTCTTTT CATATTACAAATGTACTCAAGAACCTGCAGGGACTCCTGTTGTTTGTGAG CTCAACAATGTGCCACATCTGGCCACAAGCTCTTCACCTCTTCTTTCTCA GTCCATCCACCTAAGTTCTAGTTACACTTCTCCTCAGCCAAACCCAGATG CTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTCAATGTGTGACAACATA CTAATCTGGAATGGTTTTCTACTTCCCTCTGTCAATGCATGTCCTCTGAC CTTTCCTCAACCAAAATAAATGAAACCCAACAACACCAAACTTCACTCTT CACTTAGGAAAGTTCATGACTGACTAAGGTACTGTCTATAGTCTCATGCA ACTTATCTTGCATTTGCCCCATCAAAATCCTCTCTTCACCACCACTCCAT CCAGTGGCCCTGGGTGGCTGATCATCATGGAATCCATTGCACCCTTGTCC TCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCATATATATTATATATGA TATATATTTTATATATTATTTTATATGTGATATATATTTTATATATCTAT ACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0177 a0002c0005t0003g0177	1	348	0.0029	1053	c.87 others(1062): Show c.879_*880insAATATAATATGTATTTTATATATTATATTATATAAA ATATAGTATATTATATATAATATAATAAATAATATAATATATAATATATA ATATAATAAATAATATAATATATAATATAATATATAATGAATAATATAAT ATATAATATATAATATATAATATAATATATAATATAATATATAATATAAT ATATAATATATAATATAATATATAATATATAATATAATATATAATATATA ATATAATATATAATGTAATATATAATATATAATATAATATATAATATATA ATATATAATATATAATATAATATATAATATACAATACATAATATATAATG TATAATATAATATATAATATAATATAAAATATATAATATATAATATATAA TATTATATATTTTATATATGCATTTCTTCTCTCAAGGCTCTCTTCTTCCC CCATTTTCCCACTGGCCACCCATGCAGGTAGAAGTAATGAGTAATGCTCT CAAACACTCTTTTCATATTACAAATGTACTCAAGAACCTGCAGGGACTCC TGTTGTTTGTGAGCTCAACAATGTGCCACATCTGGCCACAAGCTCTTCAC CTCTTCTTTCTCAGTCCATCCACCTAAGTTCTAGTTACACTTCTCCTCAG CCAAACCCAGATGCTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTCAAT GTGTGACAACATACTAATCTGGAATGGTTTTCTACTTCCCTCTGTCAATG CATGTCCTCTGACCTTTCCTCAACCAAAATAAATGAAACCCAACAACACC AAACTTCACTCTTCACTTAGGAAAGTTCATGACTGACTAAGGTACTGTCT ATAGTCTCATGCAACTTATCTTGCATTTGCCCCATCAAAATCCTCTCTTC ACCACCACTCCATCCAGTGGCCCTGGGTGGCTGATCATCATGGAATCCAT TGCACCCTTGTCCTCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCATAT ATATTATATATGATATATATTTTATATATTATTTTATATGTGATATATAT TTTATATATCTATACAA	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding		764		chr2	TogoVar
IQSEC3_chr12_61767_183455	163272	C C	CCCTCCCT others(1046): Show CCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACC GGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCT CCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAC CCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCT CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAA CCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTC CTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGG ACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCC CTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCC CTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCC ACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCC CCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAG AACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTC CCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACC GGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCT CCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG CCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCT CCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCC CTCT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0260 a0002c0001t0002g0260	1	282	0.0036	1053	c.258 others(1070): Show c.2584-202_2584-201insGCCCTCCCCTCCCCTCCCTCCACAGAAC CGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCC TCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGA CCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCC TCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCC TCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCA CAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCC CTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGA ACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCT CCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCG GACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTC CCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGC CCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTC CACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTC CCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACA GAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCT CCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAAC CGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCC TCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGA GCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCC TCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTCC CCTCTCCTCCCTCCACAGAACCGGA	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	163272	C C	CCCTCCCT others(1046): Show CCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACC GGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCT CCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG CCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCT CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAA CCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTC CTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGG ACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCC CTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCC CTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCC ACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCC CCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAG AACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTC CCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACC GGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCT CCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG CCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCT CCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCC CTCT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0035 a0001c0004t0035	a0001c0004t0035g0030 a0001c0004t0035g0030	1	282	0.0036	1053	c.258 others(1070): Show c.2584-202_2584-201insGCCCTCCCCTCCCCTCCCTCCACAGAAC CGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCC TCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGA GCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCC TCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCC TCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCA CAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCC CTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGA ACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCT CCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCG GACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTC CCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGC CCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTC CACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTC CCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACA GAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCT CCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAAC CGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCC TCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGA GCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCC TCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTCC CCTCTCCTCCCTCCACAGAACCGGA	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KIF25_chr6_167992671_168050091	167997507	T T	TGGGGCGA others(1046): Show TGGGGCGACGGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGA GATGGGGGCGGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAG AGATGGGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCA GAGATGGGGGCGGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCA GAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGGAATCTGCAGAGATGGGGGGCGGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGGTGGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGA GGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGGAATCTGCAGAG ATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGA TGGGGGGCGGGGGAATCTGCAGAGATGGGGGGGCGGGGGAATCTGCAGAG ATGGGGCGACGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGG TGGGGGCGGGGGAATCTGCAGAGATGGGGGCCGGGGGAATCTGCAGAGAT GGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAGTCTGCAGAGA TGGGGGGCGGGGGAATCTGCAGAGATGGGGGGGCGGGGGAGTCTGCAGAG GTGGGGGGGCGGGGGAATCTGCAGAGATGGGGGCCGGGGGAGTCTGCAGA GATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0222 a0003c0004t0001g0222	1	375	0.0027	1053	c.-19 others(1064): Show c.-1962_-1961insGGGGCGACGGGGGGAATCTGCAGAGATGGGGGGC GGGGGAATCTGCAGAGATGGGGGCGGGGGGAATCTGCAGAGATGGGGGGT CGGGGGAATCTGCAGAGATGGGGGGGCGGGGGAATCTGCAGAGATGGGGG TCGGGGGAATCTGCAGAGATGGGGGCGGGGGGAATCTGCAGAGATGGGGG GCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGG GGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGGAATCTGCAGAGATGGG GGGCGGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGGTGGGGGGTCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGG GGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGGCG GGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGTC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGG GGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCCGGG GGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGG GGGAGTCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGGCG GGGGAGTCTGCAGAGGTGGGGGGGCGGGGGAATCTGCAGAGATGGGGGCC GGGGGAGTCTGCAGAGATG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		163		chr6	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(1046): Show ATGTATATATATGTGTGTATATATACATATATGTATATGTATGTGTGTAT ATATGCATATATGTATATGTATATGTGTATATATGCATATATGTATATGC ATATGTGTGTATATATGCATATATATGTATATGCATATGTGTGTATATAT ACATATATATGTATATGCATATGTGTGTATATATACATATATATGTATAT GCATATGTGTGTATATATACATATATATGGATATGCATATGTGTGTATAT ATACATATATATGTATATGCATATGTGTGTATATATACATATATATGTAT ATGCATATGTGTGTATATATACATAGGATATGTATATGCATATGTGTGTA TATATACATATATGTATATGCATATGTGTGTATATATACATATATATGTA TATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTA TATATACACATATACGTATATGCATATGTGTGTATATATACACATATACG TATATGCATATGTGTGTATATATACACATATACGTATATGCATATGTGTG TAAATATACACATATACGTATATGCATATGTGTGTATATATACACATATA CGTATATGCATATGTGTGTATATATACACATATACGTATATGCATATGTG TGTATATATACACATATACGTATATGCATATGTGTGTATATATACACATA TACGTATATGCATATGTGTGTATATATACACATATACGTATATGCATATG TGTGTATATATACACATATACGTATATGCATATGTGTGTATATATACACA TATACGTATATGCATATGTGTGTATATATACACATATACGTATATGCATA TGTGTGTATATATACACATATACGTATATGCATATGTGTGTATATATACA CATATACATATATATGCATATATGTGTATATATACATATACATATATATG CATATATGTGTATACATATACATATATATGCATATATGTGTATATATACA CATATATATGTGTGTGTATATATATGTGTGTGTATATATACACATATATA TGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	456	0.0022	1053	c.31 others(1064): Show c.3116_*3117insTGTATATATATGTGTGTATATATACATATATGTA TATGTATGTGTGTATATATGCATATATGTATATGTATATGTGTATATATG CATATATGTATATGCATATGTGTGTATATATGCATATATATGTATATGCA TATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATA CATATATATGTATATGCATATGTGTGTATATATACATATATATGGATATG CATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATA TACATATATATGTATATGCATATGTGTGTATATATACATAGGATATGTAT ATGCATATGTGTGTATATATACATATATGTATATGCATATGTGTGTATAT ATACATATATATGTATATGCATATGTGTGTATATATACATATATATGTAT ATGCATATGTGTGTATATATACACATATACGTATATGCATATGTGTGTAT ATATACACATATACGTATATGCATATGTGTGTATATATACACATATACGT ATATGCATATGTGTGTAAATATACACATATACGTATATGCATATGTGTGT ATATATACACATATACGTATATGCATATGTGTGTATATATACACATATAC GTATATGCATATGTGTGTATATATACACATATACGTATATGCATATGTGT GTATATATACACATATACGTATATGCATATGTGTGTATATATACACATAT ACGTATATGCATATGTGTGTATATATACACATATACGTATATGCATATGT GTGTATATATACACATATACGTATATGCATATGTGTGTATATATACACAT ATACGTATATGCATATGTGTGTATATATACACATATACGTATATGCATAT GTGTGTATATATACACATATACATATATATGCATATATGTGTATATATAC ATATACATATATATGCATATATGTGTATACATATACATATATATGCATAT ATGTGTATATATACACATATATATGTGTGTGTATATATATGTGTGTGTAT ATATACACATATATATGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
PGBD5_chr1_230309490_230431332	230332040	A A	ACACACCA others(1046): Show ACACACCACACACACACACACCATACCCATAACATAGACATGCACGTGTA TACACACCACACAAACATACAGACTACACACACCACACTATGTAAACATA CATATACACACACCACACAGACCACACACACACCATGCCCATAACATAGA CAAACACGTGTATACACACCACACAACATACAGACCACACACACCATACA AACTTACCACACAACAATACACACACACCACACCCACCATACCACACATA CCATACCACATACACACTCCACACCACAGTACACCACACCAATATAGACA CACACCACACCCACTATACCACACATACCATACCACATACACACTCCACA CCACAGTACACCGCGCCAATATATACACACACCACACCCACCATACCACA AATACATATCACATACACACTCCACACCAAATATATACACACGCTGACAT CACAGAAACATACGTATCACATACTCCACACCGCATACAAAACACCAACA TAGACACACACACCACACCCACCATACCACACATACCATACCACATACAC ACTCCACACCACAGTACACACCAATATATACACACACACTGCAGCCACCA TACCACAAATACATATCACATCCACACTCCACACCACACACACAAATATA TACACACATGTCACAGAAACATACATATCACATACTCCACACCACATACA ACACACCAACATACACACACACCACACCCACCATACCACACATACCATAC CACATACACACTCCACACCACAGTACACCACACCAATATAGACACACACA CACCACACCCACCATACTACAAATACATATCACATCCACACTCCACACCA CACAAATATATACACACGTCACAGAAACATACATATCACATTCTCCACAC CGCATACAACACACCAACATATACACACACACCGCACCCACCATACCACA CATACCATACCACATACACACTCCACACCACAGTACACCACACCAATATA TACACACACACCACACACACCATGCCACCAAAAATACATATCACATACAC ACTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0017 a0001c0001t0091g0017	1	288	0.0035	1053	c.127 others(1070): Show c.1273+803_1273+804insGAGTGTGTATGTGATATGTATTTTTGGT GGCATGGTGTGTGTGGTGTGTGTGTATATATTGGTGTGGTGTACTGTGGT GTGGAGTGTGTATGTGGTATGGTATGTGTGGTATGGTGGGTGCGGTGTGT GTGTATATGTTGGTGTGTTGTATGCGGTGTGGAGAATGTGATATGTATGT TTCTGTGACGTGTGTATATATTTGTGTGGTGTGGAGTGTGGATGTGATAT GTATTTGTAGTATGGTGGGTGTGGTGTGTGTGTGTCTATATTGGTGTGGT GTACTGTGGTGTGGAGTGTGTATGTGGTATGGTATGTGTGGTATGGTGGG TGTGGTGTGTGTGTATGTTGGTGTGTTGTATGTGGTGTGGAGTATGTGAT ATGTATGTTTCTGTGACATGTGTGTATATATTTGTGTGTGTGGTGTGGAG TGTGGATGTGATATGTATTTGTGGTATGGTGGCTGCAGTGTGTGTGTATA TATTGGTGTGTACTGTGGTGTGGAGTGTGTATGTGGTATGGTATGTGTGG TATGGTGGGTGTGGTGTGTGTGTCTATGTTGGTGTTTTGTATGCGGTGTG GAGTATGTGATACGTATGTTTCTGTGATGTCAGCGTGTGTATATATTTGG TGTGGAGTGTGTATGTGATATGTATTTGTGGTATGGTGGGTGTGGTGTGT GTATATATTGGCGCGGTGTACTGTGGTGTGGAGTGTGTATGTGGTATGGT ATGTGTGGTATAGTGGGTGTGGTGTGTGTCTATATTGGTGTGGTGTACTG TGGTGTGGAGTGTGTATGTGGTATGGTATGTGTGGTATGGTGGGTGTGGT GTGTGTGTATTGTTGTGTGGTAAGTTTGTATGGTGTGTGTGGTCTGTATG TTGTGTGGTGTGTATACACGTGTTTGTCTATGTTATGGGCATGGTGTGTG TGTGGTCTGTGTGGTGTGTGTATATGTATGTTTACATAGTGTGGTGTGTG TAGTCTGTATGTTTGTGTGGTGTGTATACACGTGCATGTCTATGTTATGG GTATGGTGTGTGTGTGTGTGGTGTG	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	5/6			chr1	TogoVar
PGBD5_chr1_230309490_230431332	230332040	A A	ACACACCA others(1046): Show ACACACCACACACACACACACCATACCCATAACATAGACATGCACGTGTA TACACACCACACAAACATACAGACTACACACACCACACTATGTAAACATA CATATACACACACCACACAGACCACACACACACCATGCCCATAACATAGA CAAACACGTGTATACACACCACACAACATACAGACCACACACACCATACA AACTTACCACACAACAATACACACACACCACACCCACCATACCACACATA CCATACCACATACACACTCCACACCACAGTACACCACACCAATATAGACA CACACCACACCCACTATACCACACATACCATACCACATACACACTCCACA CCACAGTACACCGCGCCAATATATACACACACCACACCCACCATACCACA AATACATATCACATACACACTCCACACCAAATATATACACACGCTGACAT CACAGAAACATACGTATCACATACTCCACACCGCATACAACACACCAACA TAGACACACACACCACACCCACCATACCACACATACCATACCACATACAC ACTCCACACCACAGTACACACCAATATATACACACACACTGCAGCCACCA TACCACAAATACATATCACATCCACACTCCACACCACACACACAAATATA TACACACATGTCACAGAAACATACATATCACATACTCCACACCACATACA ACACACCAACATACACACACACCACACCCACCATACCACACATACCATAC CACATACACACTCCACACCACAGTACACCACACCAATATAGACACACACA CACCACACCCACCATACTACAAATACATATCACATCCACACTCCACACCA CACAAATATATACACACGTCACAGAAACATACATATCACATTCTCCACAC CGCATACAACACACCAACATATACACACACACCGCACCCACCATACCACA CATACCATACCACATACACACTCCACACCACAGTACACCACACCAATATA TACACACACACCACACACACCATGCCACCAAAAATACATATCACATACAC ACTC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01109.hp2 others(3): Show HG01070.hp2 HG01071.hp2 HG01109.hp2 HG01243.hp1 HG02615.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0014 a0001c0008t0114 a0001c0008t0115 a0001c0001t0014 a0001c0008t0114 a0001c0008t0115	a0001c0001t0014g0001 a0001c0001t0014g0039 a0001c0001t0014g0040 others(2): Show a0001c0001t0014g0001 a0001c0001t0014g0039 a0001c0001t0014g0040 a0001c0008t0114g0115 a0001c0008t0115g0016	6	288	0.0208	1053	c.127 others(1070): Show c.1273+803_1273+804insGAGTGTGTATGTGATATGTATTTTTGGT GGCATGGTGTGTGTGGTGTGTGTGTATATATTGGTGTGGTGTACTGTGGT GTGGAGTGTGTATGTGGTATGGTATGTGTGGTATGGTGGGTGCGGTGTGT GTGTATATGTTGGTGTGTTGTATGCGGTGTGGAGAATGTGATATGTATGT TTCTGTGACGTGTGTATATATTTGTGTGGTGTGGAGTGTGGATGTGATAT GTATTTGTAGTATGGTGGGTGTGGTGTGTGTGTGTCTATATTGGTGTGGT GTACTGTGGTGTGGAGTGTGTATGTGGTATGGTATGTGTGGTATGGTGGG TGTGGTGTGTGTGTATGTTGGTGTGTTGTATGTGGTGTGGAGTATGTGAT ATGTATGTTTCTGTGACATGTGTGTATATATTTGTGTGTGTGGTGTGGAG TGTGGATGTGATATGTATTTGTGGTATGGTGGCTGCAGTGTGTGTGTATA TATTGGTGTGTACTGTGGTGTGGAGTGTGTATGTGGTATGGTATGTGTGG TATGGTGGGTGTGGTGTGTGTGTCTATGTTGGTGTGTTGTATGCGGTGTG GAGTATGTGATACGTATGTTTCTGTGATGTCAGCGTGTGTATATATTTGG TGTGGAGTGTGTATGTGATATGTATTTGTGGTATGGTGGGTGTGGTGTGT GTATATATTGGCGCGGTGTACTGTGGTGTGGAGTGTGTATGTGGTATGGT ATGTGTGGTATAGTGGGTGTGGTGTGTGTCTATATTGGTGTGGTGTACTG TGGTGTGGAGTGTGTATGTGGTATGGTATGTGTGGTATGGTGGGTGTGGT GTGTGTGTATTGTTGTGTGGTAAGTTTGTATGGTGTGTGTGGTCTGTATG TTGTGTGGTGTGTATACACGTGTTTGTCTATGTTATGGGCATGGTGTGTG TGTGGTCTGTGTGGTGTGTGTATATGTATGTTTACATAGTGTGGTGTGTG TAGTCTGTATGTTTGTGTGGTGTGTATACACGTGCATGTCTATGTTATGG GTATGGTGTGTGTGTGTGTGGTGTG	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	5/6			chr1	TogoVar
RAB11FIP3_chr16_420649_528011	458604	G G	GGGTTCAC others(1046): Show GGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGA TGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGG CCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCC TTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTT CACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCC ACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGG GGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCT CGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCG ATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGG GCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGC CTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGT TCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCC CACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTG GGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCC TCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACC GATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAG GGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGG CCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGG TTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGC CCACAGGGCCTGGAGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCT GGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTC CTCA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0139 a0001c0001t0047g0139	1	295	0.0034	1053	c.715 others(1070): Show c.715-2787_715-2786insCCACAGGGCCTGGGGGGCCTTCCTCGGG TTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGC TCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCT GGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTC CTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC CGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACA GGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGG GCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGG GTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATG CCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCC TGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA CCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGG GGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCG GGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGAT GCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGC CTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCT TCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTC ACCGATGCCCACAGGGCCTGGAGGGCCTTCCTCGGGTTCACCGATGCTCA CAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGG GGGCCTTCCTCAGGTTCACCGATGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492455	T T	TCCCCGGG others(1046): Show TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCT CCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0030	a0001c0002t0030g0147 a0001c0002t0030g0147	1	295	0.0034	1053	c.126 others(1072): Show c.1265+3455_1265+3456insCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13			chr16	TogoVar
RAB40B_chr17_82649973_82703698	82671976	C C	CACACCCT others(1046): Show CACACCCTGTACTCACTGACACACCCCACCCCGTCACTCTAAAACACACA CACTCACACACCCTGTACCCACTGACACACCCCACCCCTGTAACTCTAAC ACACACTCACATGCTCCCTGTACCCACTGACACAGCTCACCCTGTAACTC TAACACACACACTCACATGCTCCCTGTACCCACTGACACAGCTCACCCCT GTAACTCTAACACACACACTCACACGCTCCCTGTACTCACTGACACACCC CACCCCTGTAACTCTAACACACACACTCACACGCTCCCTGTACTCACTGA CACACCCCAACCCTGTAACCCTAACACACACAGTCACACATCCTGTACTC ACTGACACACTTCACCCTGTAACTCTAACACACTCACACGCTCTCTGTAC TGACACACCTCACCCCTGTAACTCTAACACACACACTCTCACACACATCC TGTACTCACTGACACACTTCACCCTGTAACTCTAACACACACACGCTCCC TGTACTCACTGACACACCCCACCCCTGTAACTCTAACACACACTCACATG CTCCCTGTACTCACTGACACACCCCACCCCTGTAACTCTAACACACACTC ACATGCTCCCTGTACTCACTGACACACCTCACCCCGTAACTCTAACACAC ACACTCACACCCTGTACTCACTGACACACCCCACCCCGTCACTCTAAAAC ACACACACTCACACACCCTGTACCCACTGACACACCTCACCCCTGTAACT CAAACCACACACACACCCTGTACTCACTGACACACCCCACCCCTGTAACT CTAACACACACACTCACACGCTCCCTGTACTCACTGACACAGCTCACCCC TGTAACTCTAACACACACACTCACACGCTCCCTGTACTCACTGACACACC CCACCCCTGTAACTCTAACACACACACTCACACGCTCCCTGTACCCACTG ACACAGCTCACCCCTGTAACTCTAACACACACTCACACGCTCCCTGTACT CACTGACACACCCCACCCGTGTAACTCTAACACACACACTCACACGCTCC CTGT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	338	0.0030	1053	c.143 others(1070): Show c.143-7421_143-7420insACAGGGAGCGTGTGAGTGTGTGTGTTAG AGTTACACGGGTGGGGTGTGTCAGTGAGTACAGGGAGCGTGTGAGTGTGT GTTAGAGTTACAGGGGTGAGCTGTGTCAGTGGGTACAGGGAGCGTGTGAG TGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCAGTGAGTACAGGGAGC GTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGAGCTGTGTCAGTGAGTAC AGGGAGCGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCAG TGAGTACAGGGTGTGTGTGTGGTTTGAGTTACAGGGGTGAGGTGTGTCAG TGGGTACAGGGTGTGTGAGTGTGTGTGTTTTAGAGTGACGGGGTGGGGTG TGTCAGTGAGTACAGGGTGTGAGTGTGTGTGTTAGAGTTACGGGGTGAGG TGTGTCAGTGAGTACAGGGAGCATGTGAGTGTGTGTTAGAGTTACAGGGG TGGGGTGTGTCAGTGAGTACAGGGAGCATGTGAGTGTGTGTTAGAGTTAC AGGGGTGGGGTGTGTCAGTGAGTACAGGGAGCGTGTGTGTGTTAGAGTTA CAGGGTGAAGTGTGTCAGTGAGTACAGGATGTGTGTGAGAGTGTGTGTGT TAGAGTTACAGGGGTGAGGTGTGTCAGTACAGAGAGCGTGTGAGTGTGTT AGAGTTACAGGGTGAAGTGTGTCAGTGAGTACAGGATGTGTGACTGTGTG TGTTAGGGTTACAGGGTTGGGGTGTGTCAGTGAGTACAGGGAGCGTGTGA GTGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCAGTGAGTACAGGGAG CGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGAGCTGTGTCAGTGGGTA CAGGGAGCATGTGAGTGTGTGTGTTAGAGTTACAGGGTGAGCTGTGTCAG TGGGTACAGGGAGCATGTGAGTGTGTGTTAGAGTTACAGGGGTGGGGTGT GTCAGTGGGTACAGGGTGTGTGAGTGTGTGTGTTTTAGAGTGACGGGGTG GGGTGTGTCAGTGAGTACAGGGTGT	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(1046): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0131 a0001c0001t0015g0131	1	304	0.0033	1053	c.66+ others(1068): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RPH3AL_chr17_207389_357807	355823	A A	AACAGTCG others(1046): Show AACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCT CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAG TCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACA GGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGC ACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACAC ACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACA GTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCAC AGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCG CACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACA CTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGC CTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCG ACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCA CACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCAC AGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCA CAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGC GCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACAC ACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01361.hp2 HG01358.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0107 a0001c0001t0013g0108 a0001c0001t0013g0107 a0001c0001t0013g0108	2	133	0.0150	1053	c.-33 others(1064): Show c.-3325_-3324insGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTG GAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT GAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTG GTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCG CCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGC GACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTG TGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCG CGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGT GGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTG TGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGT GGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTC GCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGG CGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGT GTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGC GCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTG TGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACT GTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTG TGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGT CGCCTGTGGAGGCGACTGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3017		chr17	TogoVar
S1PR4_chr19_3173769_3185332	3178051	A A	ATCGGGCT others(1046): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCC CTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACG CATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCT CTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAG TTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCT GCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCG GGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGG CCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCC CCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGG GCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGCCCTCAGTTTC CCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 NA20129.hp1 HG02895.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	418	0.0048	1053	c.-74 others(1062): Show c.-742_-741insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGG GCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTC CCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCT CTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTC AGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTT CTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCT CGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTG GGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTT CCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCA ACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGC TCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCT CAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCT TCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCA TCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCT GGCCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTT TCCCCTTCTGCAACGCC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		717		chr19	TogoVar
SERINC2_chr1_31408213_31439678	31431777	A A	ATAGGGTG others(1046): Show ATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGT TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGAT AGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGACAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACA GGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTG GTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGAGAG GGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGATGG TTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGTTAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGTTAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGG TGGACAGGGTGGATAGGGTGGTTAGGATGGTTAGGGTGGTTAGGGTGGTT AGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACA GGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTG GTTAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAG GGTGGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGG ATAGGGTGGTTAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGG GTGGAGAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGA TAGGGTGGTTAGGGTGGTTAGGGTGGTTAGGGTGGTTAGGGTGGATAGGA TGGT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	2	376	0.0053	1053	c.101 others(1072): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGATAGGATG GTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGG GTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGGG TGGATAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGAG AGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGT GGATAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATA GGGTGGATAGGATGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTG GACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGTTAGGGTGG ATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGTTAGGATGGTTAGG GTGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGTT AGGGTGGATAGGGTGGTTAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGT GGAGAGGGTGGAGAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACA GGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGAGAGGGTG GAGAGGGTGGAGAGGGTGGAGAGGGTGGACAGGGTGGATAGGGTGGATAG GGTGGACAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGTTAGGGTGG TTAGGGTGGATAGGATGGTTAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431778	T T	TAGGGTGG others(1046): Show TAGGGTGGTTAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGAC AGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGACA GGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTG GACAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGTTAG AGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGG GTGGTTAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGAGTGGACAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGT GGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTA GGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGTTAGAGTGGACAGGGTGGACAGGGTGGACAG GGTGGACAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACAGG GTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGA CAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGT GGAC	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0024 a0011c0015t0024	a0011c0015t0024g0069 a0011c0015t0024g0069	1	376	0.0027	1053	c.101 others(1072): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGATAGGATG GTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAG GGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGG GTGGTTAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGT TAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGATAGGGTGGATAGGG TGGACAGGGTGGTTAGAGTGGACAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGT GGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGACA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GTTAGAGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAG GGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ACAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGG GTGGTTAGGGTGGTTAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGAGTGGACAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGT GGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTG GACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAG GGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ACAGGGTGGATAGGGTGGACAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431953	G G	GTGGACAG others(1046): Show GTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGA GAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGACAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGAGAGGGTGGTT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGT GGATAGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATA GGGTGGATAGGATGGTTAGGGTGGACAGGGTGGACAGGGTGGATAGGGTG GATAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGG AGAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGATAGG GTGGAGAGGGTGGATAGGGTGGAGAGGGTGGACAGGGTGGAGAGGGTGGA GAGGGTGGATAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGAGAGGGTGGAT AGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGAGAGGGTGGACAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGACAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTG GATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGAGAGGGTGGTCAGGGTGGATAGGGTGGACAGG GTGGAGAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA GAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGAGAGGG TGGAGAGGGTGGAGAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGAT AGGA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0289 a0001c0001t0006g0289	1	376	0.0027	1053	c.101 others(1072): Show c.1014-1011_1014-1010insACAGGGTGGACAGGGTGGACAGGGTG GACAGGGTGGATAGGGTGGAGAGGGTGGACAGGGTGGATAGGGTGGAGAG GGTGGAGAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ACAGGGTGGAGAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGTTAGGGTGGATAGGGTGGAGAGGGTGGACAGGGTGGA CAGGGTGGACAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGACAGGG TGGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGAGAGGGTGGAG AGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGT GGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGACAGGGTGGACA GGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTG GACAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGACAGGGTGGAGAG GGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ACAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGTTAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGA CAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGAGAGGG TGGATAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGTCA GGGTGGATAGGGTGGACAGGGTGGAGAGGGTGGACAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGAGAGGGTGGACAGGGTGGATAGGGTGGAGAG GGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGACAGGGTGG ATAGGGTGGAGAGGGTGGATAGGATGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432174	T T	TAGGGTGG others(1046): Show TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGG TGGATAGGGTGGAGAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACA GGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTG GACAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGG ATAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGG GTGGACAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGA TAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGATAGGG TGGATAGGATGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGAT AGGGTGGAGAGGGTGGAGAGGGTGGATAGGATGGTTAGGGTGGACAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTG GACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGG ACAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGA GAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTCAGGGT GGAC	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0175 a0001c0004t0003g0175	1	376	0.0027	1053	c.101 others(1070): Show c.1014-777_1014-776insATAGGGTGGATAGGGTGGATAGGGTGGT TAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGACAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGT GGACAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGTTA GGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGACAG GGTGGATAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGG TTAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGTTAGG GTGGATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGA TAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGG TGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGATGGTTAGGGTGGAC AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACA GGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGAGAG GGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGG GTGGAGAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGAGAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTC AGGGTGGACAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(1046): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAG GAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAAGGAAGG AGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGG GAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAA AGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGG GAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGG GAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGA AGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGG AAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAA AGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGG GGGA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	322	0.0031	1053	c.597 others(1070): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCC CCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCT TCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTC CTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCC TCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTC CCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCC TCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTC CCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCT CTTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCC CTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTTCTCCCTCCCT CCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTTCC TCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTC CTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
THAP4_chr2_241579405_241642158	241590826	G G	GCAGAGCT others(1046): Show GCAGAGCTGCTCGGCTGATGATAATGGGCACTAGGACACTCAGAGCTGCT CGGCTGACGATAATGGGCACTAGGACACACAGAACTGCCCGGCTGACGAT GATGGGCACTAGGACACTCAGAGCTGCTCGGCTGATGATGATGGGCACTA GGACACTCAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACACACAGA GCTGCTCGGCTGATGATGATGGGCACTAGGACACTCAGAGCTGCCCGGCT GATGATGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGACGATAATGG GCACTCGGACACACAGAACTGCCCGGCTGACGATGATGGGCACTAGGACA CTCAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACACTCAGAGCTGC TCGGCTGATGATGATGGGCACTAGGACACACAGAGCTGCTCGGCTGATGA TGATGGGCACTAGGACACTCAGAGCTGCCCGGCTGATGATGATGGGCACT AGGACACTCAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACACTCAG AGCTGCTCGGCTGATGATGATGGGCACTAGGACACACAGAACTGCTCGGC TGATGATGAGGGGCACTAGGACACTCAGAACTGCCCGGCTGATGATGAGG GGCACTAGGACACGCAGAGCTGCTCGGCTGACGATAATGGGCACTAGGAC ACGCAGAACTGCCCGGCTGACGATGATGGGCACTAGGACACACAGAACTG CCCGGCTGACGATGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGACG ATGATGGGCACTAGGACACACAGAACTGCCCGGCTGACGATGATGGGCAC TAGGACACTCAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACACTCA GAGCTGCTCGGCTGATGATGATGGGCACTAGGACACACAGAGCTGCTCGG CTGATGATGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGATGATGAT GGGCACTAGGACACGCAGAGCTGCTCGGCTGATGATGATGGGCAGTAGGA CACT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0200 a0001c0002t0001g0200	1	390	0.0026	1053	c.161 others(1072): Show c.1615-6102_1615-6101insAGTGTCCTACTGCCCATCATCATCAG CCGAGCAGCTCTGCGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTC TGAGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGTGTGTCCTA GTGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCAT CATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCGTCAGCCGGG CAGTTCTGTGTGTCCTAGTGCCCATCATCGTCAGCCGAGCAGCTCTGAGT GTCCTAGTGCCCATCATCGTCAGCCGGGCAGTTCTGTGTGTCCTAGTGCC CATCATCGTCAGCCGGGCAGTTCTGCGTGTCCTAGTGCCCATTATCGTCA GCCGAGCAGCTCTGCGTGTCCTAGTGCCCCTCATCATCAGCCGGGCAGTT CTGAGTGTCCTAGTGCCCCTCATCATCAGCCGAGCAGTTCTGTGTGTCCT AGTGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCA TCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCATCAGCCGG GCAGCTCTGAGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGTG TGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGC CCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCGTC AGCCGGGCAGTTCTGTGTGTCCGAGTGCCCATTATCGTCAGCCGAGCAGC TCTGAGTGTCCTAGTGCCCATCATCATCAGCCGGGCAGCTCTGAGTGTCC TAGTGCCCATCATCATCAGCCGAGCAGCTCTGTGTGTCCTAGTGCCCATC ATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCATCAGCCG AGCAGCTCTGAGTGTCCTAGTGCCCATCATCGTCAGCCGGGCAGTTCTGT GTGTCCTAGTGCCCATTATCGTCAGCCGAGCAGCTCTGAGTGTCCTAGTG CCCATTATCATCAGCCGAGCAGCTCTG	THAP4	ENSG00000176946.13	transcript	ENST00000407315.6	protein_coding	5/5			chr2	TogoVar
THEG_chr19_356747_381026	377132	C C	CTGTGCCC others(1046): Show CTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCT CCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGC CTCTCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTGTGTGCCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCTGTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCC CCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTGTGTG CCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCC TGTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTACCC CACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTG CCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCT CTGTGCCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCC CCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0009 a0005c0005t0009	a0005c0005t0009g0104 a0005c0005t0009g0104	1	370	0.0027	1053	c.-11 others(1064): Show c.-1163_-1162insCAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGA GAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGG GAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGA GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGG CACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGG GGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGG GTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCT GGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGG CTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGGCACACAGGGGGAGAGGCTGGGTGGGGTACAGAGGGG GAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAG GGGGAGAGGCTGGGTGGGGGCACACAGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGG CACACAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGG GGCACAGAGGGGGAGAGGCTGGGTGGGGGCACACAGGGGGAGAGGCTGGG TGGGGCACAGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCT GGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGA GGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGCACA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1107		chr19	TogoVar
TP53AIP1_chr11_128930370_128947871	128930878	G G	GGGGTTAG others(1046): Show GGGGTTAGGGAGGCCGGGGTCAGGGAGGCCGGGGTCAGGGAGGCCGGGGT TAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTCAGGGAGGCCGGGGTTAGG GAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAG GCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGG GTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTC AGGGAGGCCGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCAGGGGTTAGGG AGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCC AGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGG GTCAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCCGGGGTTAG GGAGGCCGGGGTCAGGGAGGCCGGGGTTAGGGAGGCCAGGGTTAGGGAGG CCAGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGTCAGGGAGGCCGG GGTTAGGGAGGCCAGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTT AGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGG AGGCCAGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAGGC CAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAG GGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCCGGGGTT GGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAGG GAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAGGGAGG CCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGG GGTTAGGGAGGCCGGGGTTATGGAGGCCAGGGTTAGGGAGGCTGGGGTTA GGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGA GGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG03041.hp1 HG03209.hp1 others(1): Show HG01243.hp2 HG03041.hp1 HG03209.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0001t0001 a0001c0001t0003 a0001c0001t0015	a0001c0001t0001g0109 a0001c0001t0003g0010 a0001c0001t0015g0046 a0001c0001t0001g0109 a0001c0001t0003g0010 a0001c0001t0015g0046	4	466	0.0086	1053	c.47 others(1064): Show c.4712_*4713insGGCCTCCTTAACCCTGGCCTCCCTAACCCCTGGC CTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCTGGCCTCCA TAACCCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAAC CCCAGCCTCCCTAACCCCGGCCTCCCTAACCCTGGCCTCCCTAACCCCTG GCCTCCCTAACCCCAGCCTCCCTAACCCTGGCCTCCCTAACCCCTGGCCT CCCTGACCCTTGGTCTCCCCAACCCCGGGCCTCCCTAACCCCAGCCTCCC TAACCCCGGCCTCCCTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAAC CCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCTG GCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCC TCCCTAACCCCGGCCTCCCTAACCCTGGCCTCCCTAACCCCTGGCCTCCC TAACCCTGGCCTCCCTAACCCCGGCCTCCCTGACCCCGGCCTCCCTAACC CTGGCCTCCCTAACCCCTGGCCTCCCTAACCCTGGCCTCCCTAACCCCGG CCTCCCTGACCCCGGCCTCCCTAACCCCGGCCTCCCTACCCTGGCCTCCC TAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAA CCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCC GGCCTCCCTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCTGGCC TCCCTAACCCCGGCCTCCCTGACCCCGGCCTCCCTAACCCCTGGCCTCCC TAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAC CCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTG GTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTGACCCCGGCCTC CCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTGACCCCGGCCTCCCTG ACCCCGGCCTCCCTAACCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4491		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930878	G G	GGGGTTAG others(1046): Show GGGGTTAGGGAGGCCGGGGTCAGGGAGGCCGGGGTTAGGGAGGCCGGGGT TAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTCAGGGAGGCCGGGGTTAGG GAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAG GCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGG GTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTC AGGGAGGCCGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCAGGGGTTAGGG AGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCC AGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGG GTCAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCCGGGGTTAG GGAGGCCGGGGTCAGGGAGGCCGGGGTTAGGGAGGCCAGGGTTAGGGAGG CCAGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGTCAGGGAGGCCGG GGTTAGGGAGGCCAGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTT AGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGG AGGCCAGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAGGC CAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAG GGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCCGGGGTT GGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAGG GAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAGGGAGG CCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGG GGTTAGGGAGGCCGGGGTTATGGAGGCCAGGGTTAGGGAGGCTGGGGTTA GGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGA GGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA20300.hp1 NA18906.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	2	466	0.0043	1053	c.47 others(1064): Show c.4712_*4713insGGCCTCCTTAACCCTGGCCTCCCTAACCCCTGGC CTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCTGGCCTCCA TAACCCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAAC CCCAGCCTCCCTAACCCCGGCCTCCCTAACCCTGGCCTCCCTAACCCCTG GCCTCCCTAACCCCAGCCTCCCTAACCCTGGCCTCCCTAACCCCTGGCCT CCCTGACCCTTGGTCTCCCCAACCCCGGGCCTCCCTAACCCCAGCCTCCC TAACCCCGGCCTCCCTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAAC CCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCTG GCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCC TCCCTAACCCCGGCCTCCCTAACCCTGGCCTCCCTAACCCCTGGCCTCCC TAACCCTGGCCTCCCTAACCCCGGCCTCCCTGACCCCGGCCTCCCTAACC CTGGCCTCCCTAACCCCTGGCCTCCCTAACCCTGGCCTCCCTAACCCCGG CCTCCCTGACCCCGGCCTCCCTAACCCCGGCCTCCCTACCCTGGCCTCCC TAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAA CCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCC GGCCTCCCTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCTGGCC TCCCTAACCCCGGCCTCCCTGACCCCGGCCTCCCTAACCCCTGGCCTCCC TAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAC CCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTG GTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTGACCCCGGCCTC CCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTG ACCCCGGCCTCCCTAACCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4491		chr11	TogoVar
WDR70_chr5_37374318_37758435	37557914	A A	AACTCTTC others(1046): Show AACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTT TGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACT CTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAG TACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAA AGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTT CAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAAC TCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGA AAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTAGTCTT TTGAAAACTCTTCAAAAGAGTAGTCTTTTGAAAACTCTTCAAAAGAGTAG TCTTTTGAAAACTCTTCAAAAGAGTAGTCTTTTGAAAACTCTTCAAAAGA GTAGTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAA CTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTG AAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCT TTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTA CTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAG AGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCA AAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTC TTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAAT ACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTT GAAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0083 a0001c0003t0001g0083	1	242	0.0041	1053	c.917 others(1072): Show c.917+41350_917+41351insAACTCTTCAAAAGAGTACTCTTTTGA AAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTT TTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTAC TCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGA GTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAA CTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTAGTCTTTTG AAAACTCTTCAAAAGAGTAGTCTTTTGAAAACTCTTCAAAAGAGTAGTCT TTTGAAAACTCTTCAAAAGAGTAGTCTTTTGAAAACTCTTCAAAAGAGTA GTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAG AGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCA AAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTC TTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAA ACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTT GAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTC TTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGT ACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAA GAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTC AAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACT CTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAA TACTCTTCAAAAGAGTACTCTTTTGAA	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
ACAP3_chr1_1287391_1312930	1290128	C C	CCCCGTGT others(1047): Show CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCCTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	295	0.0034	1054	c.34 others(1065): Show c.3435_*3436insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCA GAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACTCGGGGGAC GGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCA GAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGG ACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACGGGACGGAGCAGAGACTCGGGGGACGGAGCA GAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGG ACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGA GACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGG AGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGG ACGGAGCAGAGACTCGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGA GACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGG AGCAGAGACACGGGACGGAGCAGAGACACGGGGAATGGAGCAGAGACACG GGACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCA GAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGAAT GGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGGAATGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGA GACACGGGAGGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAG CAGAGACACGGGGGACGGAGCAGAGACACGGGGAATGGAGCAGAGACACG GGACGGAGCAGAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2262		chr1	TogoVar
AHRR_chr5_316714_443285	415531	G G	GTCTCCCT others(1047): Show GTCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGC GGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCC GAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGG GTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGG CCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTG GGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGG GGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGG TCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTA GGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCT GGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCTGCTGGGAGGCC TAGGGGCCGAGTCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGC CTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCTGCTGGGAGG CCTAGGGGCCGAATCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCT GCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGA GGCCTAGGGGCCGAGTCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGT CTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGCGG GAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGA ATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGC GGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCC GAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAACCTGCCTGGTCTG CTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCAGGCGGGAGGCCTAGGGG CCGAA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0012 a0003c0004t0012	a0003c0004t0012g0168 a0003c0004t0012g0168	1	268	0.0037	1054	c.441 others(1071): Show c.441+2101_441+2102insCCCTGGTCGGGCGGGAGGCCTAGGGGCC GAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGG GCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGG CCGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTG GGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGG GGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGG TCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTA GGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCT GGTCGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCC TAGGGGCCGAATCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGC CTGGTCTGCTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTGGGGCGGGAGG CCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCT CCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGGGA GGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAAT CTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGCGG GAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGA GTCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGC GGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCC GAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGG GCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGG CCGAACCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTC AGGCGGGAGGCCTAGGGGCCGAATCT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGAP19_chr10_97217179_97297637	97251500	A A	AAGGGGAA others(1047): Show AAGGGGAAAGGAAGGAAGGGGGAGGGGAAGGGAAGGGGAAGGGAAGGGGA AGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGAA AAGGGAAGGAGAAAAGGAAGGGAAGGGGAAGGGAAGGGGAAGATGAAGGG AAAGGGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGAGGGGAAGGGAAGGG GAAGGGGAAAGAAAGGGAGAGGGAGGGGGCAGGGAAGGGAAGGGGAATGG AAGAGGAAGGAAGGGGAAGGAAGGGGAATGGAAAGGAAGGGGAAGGGGAA GGGAAGGGAAAGGGAAGGGGGAGGGGAAGGGGAAGGGGGAGGGGAAGGGG GAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGAAAGGAAGGGGAAG GGGGAGGGAAAGGAAAGGGGAATGGAAGGGAAGGGAAAGGAAGGGGAAGG GAAGGGGAAGGGGAGGAGAAGGGGAAGGGGAAGGGAAAAGGAAGGAGAAG AGGAAGGGAAGGGGAGGGGAAGGCAAGGGGAAAGGAAGGAAGGGGGAGGG GAAGGGGAAGGGAAGGGGAGGGGAAGGGGAAGGGAAGGGGAAGGGAAGGG GAAAGGGAAGGGGAAGGGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGAGG GGAAGGGGAGGGGAAGGGGAAAGGAAGGGGGGGAAGGGAAGGTGGAAGGA AGGGGAAGGGGAATGGAAAGGAAGGGGAAGGGGAAGGGAAGGGAAAGGGA AGGGGGAGGGGAAGGGGAAAGGGAAAGGAAGGGGAAGGGAAAGGAAGGGG GAGGGAAAGGAAAGGGGAAGGGAAGGGAAGGGGAAGGGAAGAGAAAGGAA GGGGAAGGGAAGGAGAAGGGGAGGGGAAGGGGAAGGGAAAAGGAGAAGAA GAGGGGAAGGGGAGGGGAAGGGAAGGGGAAAGGAAGGAAGGGGGAGGGGA AAGGAAGGAAGGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAG GGGAAGGGAAAGGGAAGGGGAAGATGAAGGGGAAGGGAAAAGGAAGGAGA AGAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	242	0.0041	1054	c.927 others(1071): Show c.927+4817_927+4818insCCTCTTCTCCTTCCTTTTCCCTTCCCCT TCATCTTCCCCTTCCCTTTCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCC TCCCCTTCCCCTCCCCCTTCCTTCCTTTCCCCTCCCCCTTCCTTCCTTTC CCCTTCCCTTCCCCTCCCCTTCCCCTCTTCTTCTCCTTTTCCCTTCCCCT TCCCCTCCCCTTCTCCTTCCCTTCCCCTTCCTTTCTCTTCCCTTCCCCTT CCCTTCCCTTCCCCTTTCCTTTCCCTCCCCCTTCCTTTCCCTTCCCCTTC CTTTCCCTTTCCCCTTCCCCTCCCCCTTCCCTTTCCCTTCCCTTCCCCTT CCCCTTCCTTTCCATTCCCCTTCCCCTTCCTTCCACCTTCCCTTCCCCCC CTTCCTTTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCTCTTCTC CTTCCTTTTCCCTTCCCCTTCCCTTTCCCCTTCCCTTCCCCTTCCCTTCC CCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCCTTCCTTCCTTTCCC CTTGCCTTCCCCTCCCCTTCCCTTCCTCTTCTCCTTCCTTTTCCCTTCCC CTTCCCCTTCTCCTCCCCTTCCCCTTCCCTTCCCCTTCCTTTCCCTTCCC TTCCATTCCCCTTTCCTTTCCCTCCCCCTTCCCCTTCCTTTCCCCTTCCC CTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCT TCCCCTCCCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCCTTCCTTTCCAT TCCCCTTCCTTCCCCTTCCTTCCTCTTCCATTCCCCTTCCCTTCCCTGCC CCCTCCCTCTCCCTTTCTTTCCCCTTCCCCTTCCCTTCCCCTCCCCTTCC CCTCCTCTTCTCCTTCCTTTTCCCTTTCCCTTCATCTTCCCCTTCCCTTC CCCTTCCCTTCCTTTTCTCCTTCCCTTTTCCCTTCCCTTCCCCTTCCCCT TCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTT CCCCTCCCCCTTCCTTCCTTTCCCCT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ATP9B_chr18_79064394_79383283	79336167	G G	GTGCCCTC others(1047): Show GTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCTGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGT GCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCACCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCC AGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCC TCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCAC CAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCACCATGC CCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTG CACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAG CACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCACCAGGTGCTCCCCTC GCCCGTCCCCAGCACCGCCGTGTGCACCCACCATGCCCTCCCTGGCACCA GGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCC TCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCA CCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCA CCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCCCCTCGC CCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGG CGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTC CCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACC CTCCA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	298	0.0034	1054	c.202 others(1071): Show c.2029-429_2029-428insCGTCCCCAGCACCGCCGTGTGCACCCTC TGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCC GTGTGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTC CCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTC CCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGG CACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCACCA TGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGT GTGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCC CAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCACCAGGTGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCACCATGCCCTCCCTGGCA CCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTG CCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGT GCACCCTCTGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCA GCACCGCCGTGTGCACCCACCATGCCCTCCCTGGCACCAGGCGCTCCCCT CGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACC AGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCC CTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGC ACCCTCCATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGC ACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCG CCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAG GTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCT CCCTGGCACCAGGCGCTCCCCTCGCC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
CCDC88C_chr14_91266323_91422820	91293498	A A	ACCCGCCA others(1047): Show ACCCGCCACAGCTCACTTTCCCATCCTCACGTGCCACAGCTCACCTTCCC ATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCTCAC CTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACA GCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCC GCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCC TCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTC CCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCTC ACCTTCCCATCCTCACCTGCCACAGCCCACCTTCCTGTCCCCTCACCTGC CACGGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCTGCCC CCTCACCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCAC CTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGC CACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGTCC CCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCAC CTTCCTGTCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGC CACAGCCCACCTTCCTGTCGCCTCGCCTGCCATGGCCCACCTTCCTGCCC CCTCGCCTGCCACAGCCCACCTTCCTGTCCCCTCGCCTGCCATGGCCCAC CTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGC CACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCC CCTCGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCAC CTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGC CACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCTCACCTTCCTGCCC CCTCG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	284	0.0035	1054	c.411 others(1071): Show c.4112+674_4112+675insCGAGGGGGCAGGAAGGTGAGCTGTGGCA GGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTG GGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGG CAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCA GGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTG GGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCATGGCAGGCGAGGGGA CAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCATGGCA GGCGAGGCGACAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTG GGCCGTGGCAGGCGAGGGGACAGGAAGGTGGGCTGTGGCAGGCGAGGGGG CAGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTGGGCTGTGGCA GGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTG GGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGG CAGGAAGGTGGGCCGTGGCAGGTGAGGGGGCAGGAAGGTGGGCCGTGGCA GGTGAGGGGACAGGAAGGTGGGCCGTGGCAGGTGAGGGGACAGGAAGGTG GGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGG AAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAG GATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCG GGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCT GTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGG TGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTCTGGCGGGTGAGGATG GGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTG AGGATGGGAAAGTGAGCTGTGGCGGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293498	A A	ACCCGCCA others(1047): Show ACCCGCCACAGCTCACTTTCCCATCCTCACGTGCCACAGCTCACCTTCCC ATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCAC CTTCCCATCCTCACCCGCCAGAGCTCACCTTCCCATCCTCACGTGCCACA GCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCC GCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCC TCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTC CCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTC ACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCA CAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCAC CCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCAT CCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCT TCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGC TCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGC CACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTC ACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCC ATCCTCACCTGCCACAGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCT ACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCTGCCCCCTCACCT GCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGC CCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCC ACCTTCCTGCCCCCTCGCCTGCCACAGCTCACCTTCCCATCCTCACCTGC CACAGCCCACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCTTCCTGTCC CCTCG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0005 a0005	a0005c0057 a0005c0057	a0005c0057t0001 a0005c0057t0001	a0005c0057t0001g0249 a0005c0057t0001g0249	1	284	0.0035	1054	c.411 others(1071): Show c.4112+674_4112+675insCGAGGGGACAGGAAGGTGGGCCGTGGCA GGCGAGGGGACAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAGGTGAG CTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCA GGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGG CGAGGGGGCAGGAAGGTGGGCCGTGGCAGGTGAGGGGGCAGGAAGGTGGG CCGTGGCAGGTGAGGGGACAGGAAGGTAGGCCGTGGCAGGTGAGGGGACA GGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTG AGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGG CGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAG CTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAA GGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGA TGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGG TGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGT GGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTG AGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGG AAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAG GATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCG GGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCT GTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGG TGAGCTCTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATG GGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTGTGGCACGTG AGGATGGGAAAGTGAGCTGTGGCGGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
COL23A1_chr5_178232618_178595393	178585731	C C	CACAGCCC others(1047): Show CACAGCCCTGGATGGCGCTGGGGTAACACTCCACGTCCCTGGATGGCGCT GGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCC CTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAA CGCCCTACAGCCCTGGTTGGCGCTGGGGTAACACTCCACAGCCCTGGATG GCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACACTCCA CAGCCCTGGTTGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGG GGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAAAGCCCTACAGCCCT GGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACG CCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGC GCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACA GCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGG TAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGG ATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCC CTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGC TGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGC CCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTA ACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGAT GGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCT ACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTG GGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCC TGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGTTGGCGCTGGGGTAAT GCCCT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03516.hp1 HG02922.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0006g0226 a0001c0001t0006g0227	2	236	0.0085	1054	c.294 others(1071): Show c.294+4172_294+4173insAGGGCATTACCCCAGCGCCAACCAGGGC TGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGC GCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGG CGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCC AGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACC CCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTG TAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGC CATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCG TTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAG GGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCC AGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTA GGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCA TCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTT ACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGG CTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCTTTACCCCAG CGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGG GCGTTACCCCAGCGCCAACCAGGGCTGTGGAGTGTTACCCCAGCGCCATC CAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTAC CCCAGCGCCAACCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCT GTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCG CCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGACGTGGAGT GTTACCCCAGCGCCATCCAGGGCTGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178585737	C C	CCTGGATG others(1047): Show CCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTA ATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGAT GGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAATGCCCT ACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTG GGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCC TGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAAT GCCCTACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGATGG CGCTGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAATGCCCTAC AGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGG GTAACACTCCACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTG GATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGC CCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCG CTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAG CCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGT AATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGA TGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCC TACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCT GGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCC CTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAA TGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATG GCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTA CAGCA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0143 a0004c0006t0003g0143	1	236	0.0042	1054	c.294 others(1071): Show c.294+4166_294+4167insTGCTGTAGGGCATTACCCCAGCGCCATC CAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTAC CCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCT GTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCG CCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGC ATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCA GGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCC CAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGT AGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCC ATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCAT TACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGG GCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCA GCGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTAG GGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCAT CCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTA CCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGC TGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGC GCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTAGGG CATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCC AGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACC CCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTG TGGAGTGTTACCCCAGCGCCATCCAG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
DCDC2C_chr2_3698575_3853008	3725401	G G	GGCAGAGA others(1047): Show GGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGA GAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGA GGAGGCTGCCCGGTGGATCCTGGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCCGGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCAGG TGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATC CCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAG GAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGAC GAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAG AGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGACCGCCAGAGTGAC GAGGATGGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAG GTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGAT CCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGA GGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGA CGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACGAGCA GAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGG GAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCC AGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGG ATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTG GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAA GACGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19240.hp1 HG02109.hp1 NA19240.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0030 a0001c0006t0001g0031 a0001c0006t0001g0030 a0001c0006t0001g0031	2	324	0.0062	1054	c.340 others(1071): Show c.340-1594_340-1593insGGAGGAGGCTGCCCGGTGGATCCCAGAG GAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGAC GAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACGAGCAG AGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGACCGCCAGAGTGAC GAGGATGGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCG GTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGAT CCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGA GGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGA CCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGGAGGAAGACGAGCAG AGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGG AGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGG CTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCC GGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGA TCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGG AGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAG ACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACGAGC AGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAG GGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGA GGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGC CCGGTGGATCCTGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTG GATCCCAGAGGAAGACGAGCAGAGAG	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3725599	A A	AGGTGGAT others(1047): Show AGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGG ATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCG GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCTGGAGGGAGACGAG CAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGACCGCCAGAGT GACGAGGATGGCCAGGTGGATCCCGGAGGGAGATGAGCAGGGAGTGAGGA GGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGC CAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTG GATCCTGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCT GGAGGGAGACCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGGAGGGA GATGAGCAGGGAGTGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAG CAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGA GGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGG AGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTG CCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGT GGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCC CAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGG AAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACG AGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACGAGCAGA GAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGA GGAGGCTGCCCGGTGGATCCTGGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0065 a0001c0002t0014g0065	1	324	0.0031	1054	c.340 others(1071): Show c.340-1395_340-1394insCGGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCC AGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGG ATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCTG GAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGA GACCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGATGAGC AGGGAGTGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAG GGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGA GGCTGCCCGGTGGATCCTGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGC CCGGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCAGGTGG ATCCCGGAGGGAGATGAGCAGGGAGTGAGGAGGCTGCCAGGTGGATCCCA GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAG CAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGA GGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGG AGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTG CCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGT GGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCC CGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGG AAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACG AGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACGAGCAGA GAGGGAGGAGGCTGCCCGGTGGATCC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(1047): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGG AGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGA GAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGG AGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAG GAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGG AGGGAGGAGGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGGGGAGGAGGGG GAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGGGGAGGAGGGAGG AGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGA GGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGG AGGGAGGAGGGAGGAGGAGGAGGGAGGGAGGAGGGAGGAGGAGGGAGGGA GGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGA GAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAG GAGGGAGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAG GAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GGAGGAAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAG GAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAG GGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGG AGGAGGAGGAGGGGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGGGGAGGA GGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGGGGAGGAGG AGGAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0069 a0069	a0069c0057 a0069c0057	a0069c0057t0001 a0069c0057t0001	a0069c0057t0001g0164 a0069c0057t0001g0164	1	252	0.0040	1054	c.118 others(1073): Show c.11806-562_11806-561insCTCCTCCTCCTCCCCCCTCCTCCTCC TCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCCCCTCCTCCTCCTC CCTCCTCCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCC TCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCC CTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCT CCCTCCTCCTCCTCCCTCCTCCTTCCTCCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTCC TCCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTC CTCCTCCCTCCTCCCTCCTCCTCCTCCTCTCCTCCCTCCTCCCTCCTCCT CCTCCCTCCTCCTCCTCCCTCCTCCTCCCTCCCTCCCTCCTCCTCCCTCC TCCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCC TCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTC CTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCC CTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCCCTCCTCCCCCTCCTCCCC CTCCTCCCTCCTCCTCCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCCCTCCT CCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTC CTCCTCCCTCCTCCTCCTCCTCCTCCCTCTCCTCCTCCTCCCTCCTCCTC CTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCC CTCCTCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
EXD3_chr9_137301896_137428162	137328653	T T	TACACAGG others(1047): Show TACACAGGGTCACACGGGACTACACGGGGCTACACGGGGCTACACGGGGC TACACGGGACTACACGGGGCTACACGGGGCTACACGGGACTACACAGGGT CACACGGGACTACACGGGACTACACGGGGCTACACGGGGCTACACGGGGC TACACGGGAACTACACGGGAGCTACACGGGACTACACGGGGCTACACGGG ACTACACGGGGCTACACGGGGCTACACGGGAGCTACACGGGACTACACGG GGCTACACGGGGCTACACGGGAGCTACACGGGGCTACACGGGGCTACACG GGAGCTACACGGGGCTACACGGGGCTACACGGGAGCTACACGGGAGCTAC ACGGGGCTACACGGGACTACACGGGACTACACGGGGCTACACGGGGCTAC ACGGGAGCTACACGGGGCTACACGGGGCTACACGGGGCTACACGGGAGCT ACACGGGGCTACACGGGACTACACGGGGCTACACGGGGCTACACGGGGCT ACACGGGAGCTACACGGGAGCTACACGGGGCTACACGGGAGCTACACGGG AGCTACACGGGGCTACACGGGAGCTACACGGGACTACACAGGGTCACACG GGACTACACGGGACTACAGGGGACTACACGGGGTCACACGGGACTACACG GGACTACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACACG GGACTACACGGGACTACACGGGGTCACACGGGACTACACGGGACTACACG GGGCTACACGGGACTACACGGGGTCACACGGGACTACACGGGACTACACG GGACTACACGGGGTCACACGGGACTACACGGGACTACACGGGGCTACACG GGACTACACGGGGTCACACGGGACTACACGGGACTACACGGGACTACACG GGACTACACAGGGTCACACGGGACTACACGGGACTACACGGGACTACACG GGGTCACACGGGACTACACGGGGCTACACGGGACTACACGGGGCTACACG GGACTACACAGGGTCACACGGGACTACACGGGACTACACGGGACTACACG GGGTC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	82	0.0122	1054	c.199 others(1073): Show c.1999-4511_1999-4510insGACCCCGTGTAGTCCCGTGTAGTCCC GTGTAGTCCCGTGTGACCCTGTGTAGTCCCGTGTAGCCCCGTGTAGTCCC GTGTAGCCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCC GTGTAGTCCCGTGTGACCCTGTGTAGTCCCGTGTAGTCCCGTGTAGTCCC GTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCC GTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCC GTGTGACCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCC GTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCC GTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCC GTGTAGTCCCCTGTAGTCCCGTGTAGTCCCGTGTGACCCTGTGTAGTCCC GTGTAGCTCCCGTGTAGCCCCGTGTAGCTCCCGTGTAGCTCCCGTGTAGC CCCGTGTAGCTCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGCCCCGTGTA GCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGCTCCCGTGTAGCCCCGTGT AGCCCCGTGTAGCCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGCCCCGTG TAGTCCCGTGTAGTCCCGTGTAGCCCCGTGTAGCTCCCGTGTAGCTCCCG TGTAGCCCCGTGTAGCCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGCCCC GTGTAGCTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCTC CCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTC CCGTGTAGCTCCCGTGTAGTTCCCGTGTAGCCCCGTGTAGCCCCGTGTAG CCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCTGTGTAGTCCCGTGTAG CCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGCCCCGTGTAG CCCCGTGTAGTCCCGTGTGACCCTGTGT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137328653	T T	TACACGGG others(1047): Show TACACGGGGCTACACGGGACTACACAGGGTCACACGGGACTACACGGGGC TACACGGGGCTACACGGGACTACACGGGGCTACACGGGGCTACACGGGAC TACACAGGGTCACACGGGACTACACGGGACTACACGGGGCTACACGGGGC TACACGGGGCTACACGGGAACTACACGGGAGCTACACGGGACTACACGGG GCTACACGGGACTACACGGGGCTACACGGGGCTACACGGGAGCTACACGG GACTACACGGGGCTACACGGGGCTACACGGGAGCTACACGGGGCTACACG GGGCTACACGGGAGCTACACGGGGCTACACGGGGCTACACGGGAGCTACA CGGGAGCTACACGGGGCTACACGGGACTACACGGGACTACACGGGGCTAC ACGGGGCTACACGGGAGCTACACGGGGCTACACGGGGCTACACGGGAGCT ACACGGGGCTACACGGGACTACACGGGGCTACACGGGGCTACACGGGGCT ACACGGGAGCTACACGGGAGCTACACGGGGCTACACGGGAGCTACACGGG AGCTACACGGGGCTACACGGGAGCTACACGGGACTACACAGGGTCACACG GGACTACACGGGACTACAGGGGACTACACGGGGTCACACGGGACTACACG GGACTACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACACG GGACTACACGGGACTACACGGGGTCACACGGGACTACACGGGACTACACG GGGCTACACGGGACTACACGGGGTCACACGGGACTACACGGGACTACACG GGACTACACGGGGTCACACGGGACTACACGGGACTACACGGGGCTACACG GGACTACACGGGGTCACACGGGACTACACGGGACTACACGGGACTACACG GGACTACACAGGGTCACACGGGACTACACGGGACTACACGGGACTACACG GGGTCACACGGGACTACACGGGGCTACACGGGACTACACGGGGCTACACG GGACTACACGGGGTCACACGGGACTACACGGGACTACACGGGACTACACG GGGTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	82	0.0122	1054	c.199 others(1073): Show c.1999-4511_1999-4510insGACCCCGTGTAGTCCCGTGTAGTCCC GTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCC GTGTAGCCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCC GTGTAGTCCCGTGTGACCCTGTGTAGTCCCGTGTAGTCCCGTGTAGTCCC GTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCC GTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCC GTGTGACCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCC GTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCC GTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCC GTGTAGTCCCCTGTAGTCCCGTGTAGTCCCGTGTGACCCTGTGTAGTCCC GTGTAGCTCCCGTGTAGCCCCGTGTAGCTCCCGTGTAGCTCCCGTGTAGC CCCGTGTAGCTCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGCCCCGTGTA GCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGCTCCCGTGTAGCCCCGTGT AGCCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTG TAGTCCCGTGTAGCCCCGTGTAGCTCCCGTGTAGCTCCCGTGTAGCCCCG TGTAGCCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCTCC CGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCTCCCGTGTAGCC CCGTGTAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCT CCCGTGTAGTTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCCCCGTGTAG TCCCGTGTAGTCCCGTGTGACCCTGTGTAGTCCCGTGTAGCCCCGTGTAG CCCCGTGTAGTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTGA CCCTGTGTAGTCCCGTGTAGCCCCGTGT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
GJB3_chr1_34776214_34791364	34777717	A A	ATCATCAC others(1047): Show ATCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACC CCAGCCATCTCCACCATCACACACATTCACAACCACACATGCACACAGCC TCCCACACCACCCCAGCCATCTCCACCATCACACACATTCACAACCACAC ATGCACACAGCCTCCCACACCACCCCAGCCACCTCCACCATCACACACAT TCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCGC CATCACACACGTTCACAACCACACATGCACACAGCCTCCCACACCACCCC AGCCATCTCCGCCATCACACACGTTCACAACCACACATGCACACAGCCTC CCACACCACCCCAGCCACCTCCACCATCACACACATTCACAACCACACAT GCACACAGCCTCCCACACCACCCCAGCCACCTCCACCATCACACACATTC ACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCGCCA TCACACACGTTCACAACCACACATGCACACAGCCTCCCACACCACCCCAG CCATCTCCGCCATCACACACGTTCACAACCACACATGCACACAGCCTCCC ACACCACCCCAGCCACCTCCACCATCACACACATTCACAACCACACATGC ACACAGCCTCCCACACCACCCCAGCCACCTCCACCATCACACACATTCAC AACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCGCCATC ACACACGTTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCC ATCTCCGCCATCACACACGTTCACAACCACACATGCACACAGCCTCCCAC ACCACCCCAGCCATCTCCGCCATCACACACGTTCACAACCACACATGCAC ACAGCCTCCCACACCACCCCAGCCACCTCCACCATCACACACGTTCACAA CCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCGCCATCAC ACACGTTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCAT CTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	444	0.0023	1054	c.-40 others(1065): Show c.-4087_-4086insTCATCACACACATTCACAACCACACATGCACACA GCCTCCCACACCACCCCAGCCATCTCCACCATCACACACATTCACAACCA CACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCACCATCACACA CATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCACCTC CACCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCAC CCCAGCCATCTCCGCCATCACACACGTTCACAACCACACATGCACACAGC CTCCCACACCACCCCAGCCATCTCCGCCATCACACACGTTCACAACCACA CATGCACACAGCCTCCCACACCACCCCAGCCACCTCCACCATCACACACA TTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCACCTCCA CCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACCC CAGCCATCTCCGCCATCACACACGTTCACAACCACACATGCACACAGCCT CCCACACCACCCCAGCCATCTCCGCCATCACACACGTTCACAACCACACA TGCACACAGCCTCCCACACCACCCCAGCCACCTCCACCATCACACACATT CACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCACCTCCACC ATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACCCCA GCCATCTCCGCCATCACACACGTTCACAACCACACATGCACACAGCCTCC CACACCACCCCAGCCATCTCCGCCATCACACACGTTCACAACCACACATG CACACAGCCTCCCACACCACCCCAGCCATCTCCGCCATCACACACGTTCA CAACCACACATGCACACAGCCTCCCACACCACCCCAGCCACCTCCACCAT CACACACGTTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGC CATCTCCGCCATCACACACGTTCACAACCACACATGCACACAGCCTCCCA CACCACCCCAGCCATCTCCG	GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding		3496		chr1	TogoVar
GTPBP6_chrX_299759_323796	315685	T T	TACACACG others(1047): Show TACACACGCAGACACACACACACACACACACACAGTAAATACATCCCGAC AGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACA CATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACA CACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACAC ACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACA CATACACACGCAGACACACACACACACACACAAACACACAGTAAATACAT CCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGACAC ACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACG CAGACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAG ACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAACA CATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACA CACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACAC ACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACA CATACACACGCAGACACACACACACACACACACAGTAAATACATCCCGAC AGGGACAGACACACACACACAGACACACACACAGAGACACACACAAACAC AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA CACACACACACACACACACACACACTAAATACATCCCGACAGGGACAGAC ACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCA GGGACACAAACACATACACACGCAGACACACACACACACACAAACACACA GTAAATACATCCCGACAGGGACAGACACACACACACAGAGACACACACAG AGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATA CGCAG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0141 a0002c0002t0001g0141	1	155	0.0065	1054	c.488 others(1069): Show c.488-387_488-386insCTGCGTATGTGTTTGTGTCCCTGCCAGCAT GTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTG TCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGT CTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTG TGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTA GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTT GTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG TGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGT GTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGT TTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTC GGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGT ATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTC TGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACT GTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGC CAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTG TGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGT GTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGT TTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTC GGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGT ATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTC TGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGT GTGTGTGTGTGTGTCTGCGTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
IL18R1_chr2_102350796_102403776	102352800	T T	TAATATAA others(1047): Show TAATATAATATGTATTTTATATATTATATTATATAAAATATAGTATATTA TATATAATATAATAAATAATATAATATATAATATATAATATAATAAATAA TATAATATATAATATAATATATAATGAATAATATAATATATAATATATAA TATATAATATAATATATAATATAATATAATAATATAATATATAATATATA ATATAATATATAATATATAATATAATATATAATATATAATATAATATATA ATGTAATATATAATATATAATATAATATATAATATATAATATATAATATA TAATATAATATATAATATACAATACATAATATATAATGTATAATATAATA TATAATATAATATAAAATATATAATATATAATATATAATATTATATATTT TATATATGCATTTCTTCTCTCAAGGCTCTCTTCTTCCCCCATTTTCCCAC TGGCCACCCATGCAGGTAGAAGTAATGAGTAATGCTCTCAAACACTCTTT TCATATTACAAATGTACTCAAGAACCTGCAGGGACTCCTGTTGTTTGTGA GCTCAACAATGTGCCACATCTGGCCACAAGCTCTTCACCTCTTCTTTCTC AGTCCATCCACCTAAGTTCTAGTTACACTTCTCCTCAGCCAAACCCAGAT GCTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTCAATGTGTGACAACAT ACTAATCTGGAATGGTTTTCTACTTCCCTCTGTCAATGCATGTCCTCTGA CCTTTCCTCAACCAAAATAAATGAAACCCAACAACACCAAACTTCACTCT TCACTTAGGAAAGTTCATGACTGACTAAGGTACTGTCTATAGTCTCATGC AACTTATCTTGCATTTGCCCCATCAAAATCCTCTCTTCACCACCACTCCA TCCAGTGGCCCTGGGTGGCTGATCATCATGGAATCCATTGCACCCTTGTC CTCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCATATATATTATATATG ATATATATTTTATATATTATTTTATATGTGATATATATTTTATATATCTA TACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0043 a0001c0003t0007g0043	1	366	0.0027	1054	c.-36 others(1065): Show c.-3629_-3628insAATATAATATGTATTTTATATATTATATTATATA AAATATAGTATATTATATATAATATAATAAATAATATAATATATAATATA TAATATAATAAATAATATAATATATAATATAATATATAATGAATAATATA ATATATAATATATAATATATAATATAATATATAATATAATATAATAATAT AATATATAATATATAATATAATATATAATATATAATATAATATATAATAT ATAATATAATATATAATGTAATATATAATATATAATATAATATATAATAT ATAATATATAATATATAATATAATATATAATATACAATACATAATATATA ATGTATAATATAATATATAATATAATATAAAATATATAATATATAATATA TAATATTATATATTTTATATATGCATTTCTTCTCTCAAGGCTCTCTTCTT CCCCCATTTTCCCACTGGCCACCCATGCAGGTAGAAGTAATGAGTAATGC TCTCAAACACTCTTTTCATATTACAAATGTACTCAAGAACCTGCAGGGAC TCCTGTTGTTTGTGAGCTCAACAATGTGCCACATCTGGCCACAAGCTCTT CACCTCTTCTTTCTCAGTCCATCCACCTAAGTTCTAGTTACACTTCTCCT CAGCCAAACCCAGATGCTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTC AATGTGTGACAACATACTAATCTGGAATGGTTTTCTACTTCCCTCTGTCA ATGCATGTCCTCTGACCTTTCCTCAACCAAAATAAATGAAACCCAACAAC ACCAAACTTCACTCTTCACTTAGGAAAGTTCATGACTGACTAAGGTACTG TCTATAGTCTCATGCAACTTATCTTGCATTTGCCCCATCAAAATCCTCTC TTCACCACCACTCCATCCAGTGGCCCTGGGTGGCTGATCATCATGGAATC CATTGCACCCTTGTCCTCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCA TATATATTATATATGATATATATTTTATATATTATTTTATATGTGATATA TATTTTATATATCTATACAA	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		2995		chr2	TogoVar
LHPP_chr10_124456823_124619141	124507236	G G	GGTAGACA others(1047): Show GGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGG GTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGG TAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGAT AGGGAGTATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGT AGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTA GACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGAGTAGGC AGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGAGGTAGGGA GGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAG GATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGT ATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGAGGGTAGACAGG ATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGTGGAGGGTAGACAGGA TTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGAT TTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGAGGGTAGACAGGAT TTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATT TCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTT CAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTC AGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTC AGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAGGGAGGATTTCA GGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAG GTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGG TGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGGATTTCAGGT GGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0039 a0002c0002t0001g0039	1	260	0.0039	1054	c.624 others(1071): Show c.624+9112_624+9113insACAGGATTTCAGGTGGGGGGATAGGGAG TATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAG GATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGG ATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAGGGAGGA TTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGAT TTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATT TCAGGTGGGGAGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGATTTC AGGTGGGGAGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCA GGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAG GTGGGGGGATAGGGAGTATTTCAGGTGTGGAGGGTAGACAGGATTTCAGG TGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGT GTGGAGGGTAGACAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGT GGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTG TGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGT GGAGGGTAGACAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGG GGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGG GGGATAGGGAGTATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGG AGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGG GGGTAGGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGA TAGGGAGGATTTCAGGTGGGGAGTAG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(1047): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGG GAGGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGAGGAGGGGAGGAAGGGGGAGGGGGAGGGAG GAGGGGAGGAAGGGGGAGGGGGAGGGAGGGGAGGAAGGGGGAGGGGGAGG GAGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGAGGAGGTGGGAGGGGGAG GGGAGGATGGGGAGGGGAGAAGGGGAGGGGAGGAGGGGAGGGGAGGAGGG GGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGAGGAG GGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGGAG GAGGGGAGGAGGGGGAGGGGAGGAGGAGGAGGGGAGGAGGGGAGGGGAGG AGGGGGAGGGGAGGAGGGGAGTAGGGGGAGGGGGGGAGGGGGAGGGGAGG GGGGAGGAAGGGGGAGGGAGGAGGGGAGGAAGGGGGAGGGAGGAGGGGAA GAAGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGAGGAGGGGGGAGGGG AGGAGGGGTGAGAGGAGGAGAGAGGAGGGGAGGAGGGGGAGGGGAGGAGG GGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGAGGGGAGGG GAGGAGGGGAGGGGAGGAAAGGAAGGGAGGGAAGGGGAGGGGAGGAGTGG AGAGGAGGATGAGGGGAGGGGAGGGGAGGAGTGGAGAGGAGGGTAAGGGA AGGAAGCAGAGGAGGGAGGAGTGGAGAGGAGGGGAAGGGAGGGGAGGGGA GGGGTGCGGGAGGGGAGGGGTGCGGGAGGGGAGGGTAAGGGAAGGGAGGG GAGGGTGGGGGAGGGGAGGGAAGAGGAGTGGAGAGGAGGAGAAGGGAGGG GAGGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0111 a0001c0002t0001g0111	1	208	0.0048	1054	c.279 others(1069): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCCTCCCTTCCCCTCCTC TCCACTCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTC CCCTCCCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCC CTTCCTTTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCT CCTCTCTCCTCCTCTCACCCCTCCTCCCCTCCCCCCTCCTCCCCTCCCCC TCCCCCTCCCTCCCCCTCCCCCTTCTTCCCCTCCTCCCTCCCCCTTCCTC CCCTCCTCCCTCCCCCTTCCTCCCCCCTCCCCTCCCCCTCCCCCCCTCCC CCTACTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CTCCTCCCCTCCCCCTCCTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCC CCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTTCTCCCCTCCCCATCCTCCCCTCCCCCTCCCACCTCCTCCCCTCC CCCCTCCCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCCTTCCTCCCCTC CCTCCCCCTCCCCCTTCCTCCCCTCCTCCCTCCCCCTCCCCCTTCCTCCC CTCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCC CCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCCTCCCCTTCCC CTCCCCTTCCCACCCCTCCCTTCTCCTTCCCCCTCCCCTTCCCTCCCTTC CCTTCTCCCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
OPA1_chr3_193588208_193702811	193636369	T T	TGGCAATT others(1047): Show TGGCAATTAACATTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTAC ATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGG TGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATG CTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATAT TCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGT GAGAATATGCGGTGTTTGGTTTTTTGTTCTTGTGATAGTTTACTGAGAAT GATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCAT TTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTA ATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTAT TGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGC ATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCA AATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCA CAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTA TTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATT GCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCAT TTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTG CATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTT TTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCTTTGTA GATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCT CCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTG CAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGT TGCCA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0216 a0002c0002t0001g0216	1	388	0.0026	1054	c.949 others(1069): Show c.949-809_949-808insTTTTTTTTATTATACTCTAAGTTTTAGGGT ACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCT GGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAA TGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGAT ATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGA GTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGTGATAGTTTACTGAGA ATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATC ATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCT TAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCT ATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCA GCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGT CAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTC CACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCC TATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGA TTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGC ATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGC TGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACT TTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCTTTG TAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTT CTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTG TGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCTTTT GTTGCCAGGCAATTAACATTTTTT	OPA1	ENSG00000198836.11	transcript	ENST00000361510.8	protein_coding	9/30		INFO_REALIGN_3_PRIME	chr3	TogoVar
PIEZO1_chr16_88710338_88790220	88731922	A A	AGAGGGCG others(1047): Show AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGAGGGCGGGGCATG GGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCT GGGGGGAGGGGGGGCGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTG TGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGT CTGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGGT GTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAG TCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGG GTGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTG AGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGG GGGTGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCAC TGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGG GGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGC ACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGATG GGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGAT GCACTGAGTCTGGGGGAGGGGGGGGGTGTGGGGATGCACTGAGTCTGGGG ATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGG GATGCACTGAGTCTGGGGGGAGGGGGGGCGTGGGGATGCACTGAGTCTGG GGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGGG GATGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGG GGGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGGGAGGGCGGGGCGT GGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCT GGGGG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0056 a0056	a0056c0107 a0056c0107	a0056c0107t0001 a0056c0107t0001	a0056c0107t0001g0234 a0056c0107t0001g0234	1	282	0.0036	1054	c.299 others(1069): Show c.2992-13_2992-12insCCCCCAGACTCAGTGCATCCCCACACCCCC CCCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCA GTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACC CCCCCCTCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCAGACTC AGTGCATCCCCACACCCCCCCCTCCCCAGACTCAGTGCATCCCCACGCCC CCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACT CAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACAC CCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAG ACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCA CACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCC AGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCC CACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCATCC CCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATC CCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCAT CCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCA TCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCC ATCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTG CATCCCCACACCCCGCCCTCCCCAGACTCAGTGCATCCCCACACCCCGCC CATCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGT GCATCCCCACGCCCCCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCG CCCATCCCCAGACTCAGTGCATCCCCATGCCCCGCCCTCTCCCCAGACTC AGTGCATCCCCACGCCCCGCCCTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
RAB40B_chr17_82649973_82703698	82671976	C C	CACACCCT others(1047): Show CACACCCTGTACTCACTGACACACCCCACCCCGTCACTCTAAAACACACA CACTCACACACCCTGTACCCACTGACACACCCCACCCCTGTAACTCTAAC ACACACTCACATGCTCCCTGTACCCACTGACACAGCTCACCCCTGTAACT CTAACACACACACTCACACGCTCCCTGTACTCACTGACACACCCCACCCC TGTAACTCTAACACACACACTCACACGCTCCCTGTACTCACTGACACACC CCAACCCTGTAACCCTAACACACACAGTCACACATCCTGTACTCACTGAC ACACTTCACCCTGTAACTCTAACACACTCACACGCTCTCTGTACTGACAC ACCTCACCCCTGTAACTCTAACACACACACTCTCACACACATCCTGTACT CACTGACACACTTCACCCTGTAACTCTAACACACACACGCTCCCTGTACT CACTGACACACCCCACCCCTGTAACTCTAACACACACTCACATGCTCCCT GTACTCACTGACACACCCCACCCCTGTAACTCTAACACACACACTCACAC GCTCCCTGTACTCACTGACACACCCCACCCCTGTAACTCTAACACACACT CACATGCTCCCTGTACCCACTGACACAGCTCACCCCGTAACTCTAACACA CACACTCACACCCTGTACTCACTGACACACCCCACCCCGTCACTCTAAAA CACACACACTCACACACCCTGTACCCACTGACACACCTCACCCCTGTAAC TCAAACCACACACACACCCTGTACTCACTGACACACCCCACCCCTGTAAC TCTAACACACACACTCACACGCTCCCTGTACTCACTGACACAGCTCACCC CTGTAACTCTAACACACACACTCACACGCTCCCTGTACTCACTGACACAC CCCACCCCTGTAACTCTAACACACACACTCACACGCTCCCTGTACCCACT GACACAGCTCACCCCTGTAACTCTAACACACACTCACACGCTCCCTGTAC TCACTGACACACCCCACCCGTGTAACTCTAACACACACACTCACACGCTC CCTGT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0232 a0001c0001t0020g0232	1	338	0.0030	1054	c.143 others(1071): Show c.143-7421_143-7420insACAGGGAGCGTGTGAGTGTGTGTGTTAG AGTTACACGGGTGGGGTGTGTCAGTGAGTACAGGGAGCGTGTGAGTGTGT GTTAGAGTTACAGGGGTGAGCTGTGTCAGTGGGTACAGGGAGCGTGTGAG TGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCAGTGAGTACAGGGAGC GTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGAGCTGTGTCAGTGAGTAC AGGGAGCGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCAG TGAGTACAGGGTGTGTGTGTGGTTTGAGTTACAGGGGTGAGGTGTGTCAG TGGGTACAGGGTGTGTGAGTGTGTGTGTTTTAGAGTGACGGGGTGGGGTG TGTCAGTGAGTACAGGGTGTGAGTGTGTGTGTTAGAGTTACGGGGTGAGC TGTGTCAGTGGGTACAGGGAGCATGTGAGTGTGTGTTAGAGTTACAGGGG TGGGGTGTGTCAGTGAGTACAGGGAGCGTGTGAGTGTGTGTGTTAGAGTT ACAGGGGTGGGGTGTGTCAGTGAGTACAGGGAGCATGTGAGTGTGTGTTA GAGTTACAGGGGTGGGGTGTGTCAGTGAGTACAGGGAGCGTGTGTGTGTT AGAGTTACAGGGTGAAGTGTGTCAGTGAGTACAGGATGTGTGTGAGAGTG TGTGTGTTAGAGTTACAGGGGTGAGGTGTGTCAGTACAGAGAGCGTGTGA GTGTGTTAGAGTTACAGGGTGAAGTGTGTCAGTGAGTACAGGATGTGTGA CTGTGTGTGTTAGGGTTACAGGGTTGGGGTGTGTCAGTGAGTACAGGGAG CGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCAGTGAGTA CAGGGAGCGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGAGCTGTGTCA GTGGGTACAGGGAGCATGTGAGTGTGTGTTAGAGTTACAGGGGTGGGGTG TGTCAGTGGGTACAGGGTGTGTGAGTGTGTGTGTTTTAGAGTGACGGGGT GGGGTGTGTCAGTGAGTACAGGGTGT	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar
RASGEF1C_chr5_180095795_180214211	180134844	C C	CCATCCAC others(1047): Show CCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCC ACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCAC CCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCC ATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCAC CTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCC CTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCAT CTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTC ACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCAT CCACCCACCCACCCATCCACCTTCCCCTCCATTTATTCAACCTCCCACCC ACCAACCCATCCACCTTCCCCTCTATCTATTCAACTATTCAACCACCCAC CCACCCACCCACCATCCATCCACCTTCCGCTCCACCTATTCACCCATCCA CCCACCCACCCATCTACCTTTCTCTCCACCTATTCACCCATCCATCCACC CACCCACCCATCCACCTTCCTCTCCATCTATTCAACTATCCACCCACCCA CCCATCCACCTTCCCCTCCATTTATTCAACCTCCCACCCACCAACCCATC CACCTTCCCCTCTATCTATTCAACTATTCAACCACCCACCCACCCACCCA CCATCCATCCACCTTCCGCTCCACCTATTCACCCATCCACCCACCCACCC ATCTACCTTTCTCTCCACCTATTCACCCATCCATCCACCCACCCACCCAT CCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCT TCCCCTCCATCTATTCACCCATCCACCCACCCACCCATCTACCTTTCTCT CCACCTATTCACCCATCCACCCACCCACCCATCTACCTTCCTCTCCATCT ATTCAACTATCCACCCACCCACCCACCTATCCACTTTCCCCTCCATCTAT TCAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA18978.hp1 HG03834.hp1 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0103 a0001c0002t0002g0115 a0001c0002t0002g0103 a0001c0002t0002g0115	2	370	0.0054	1054	c.438 others(1071): Show c.438+1533_438+1534insTTTGAATAGATGGAGGGGAAAGTGGATA GGTGGGTGGGTGGGTGGATAGTTGAATAGATGGAGAGGAAGGTAGATGGG TGGGTGGGTGGATGGGTGAATAGGTGGAGAGAAAGGTAGATGGGTGGGTG GGTGGATGGGTGAATAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGA TGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGATG GGTGAATAGGTGGAGAGAAAGGTAGATGGGTGGGTGGGTGGATGGGTGAA TAGGTGGAGCGGAAGGTGGATGGATGGTGGGTGGGTGGGTGGGTGGTTGA ATAGTTGAATAGATAGAGGGGAAGGTGGATGGGTTGGTGGGTGGGAGGTT GAATAAATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATAGTTGAATAG ATGGAGAGGAAGGTGGATGGGTGGGTGGGTGGATGGATGGGTGAATAGGT GGAGAGAAAGGTAGATGGGTGGGTGGGTGGATGGGTGAATAGGTGGAGCG GAAGGTGGATGGATGGTGGGTGGGTGGGTGGGTGGTTGAATAGTTGAATA GATAGAGGGGAAGGTGGATGGGTTGGTGGGTGGGAGGTTGAATAAATGGA GGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAA GGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGA TGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTG GGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGG TGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATG GGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAG TAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATG GAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGG AAGGTGGATGGGTGGGTGGGTGGATG	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	4/13			chr5	TogoVar
ROBO2_chr3_77035099_77654964	77322918	A A	ATATATTA others(1047): Show ATATATTATGGATAATATAATATATTATATTATATTATGGATAATATAAT ATATTATATTATATTATGGATAATATAATATATTATATTATATTATGGAT AATATAATATATTATATTATATTATGGATAATATAATATATTATATTATA TTATGGATAATATAATATATTATATTATATTATGGATAATATAATATATT ATATTATATTATGGATAATATAATATATTATATTATATTATGGATAATCT AATATATTATATTATATTATGGATAATCTAATATATTATATTATGGATAA TCTAATATATTATATTATATTATGGATAATCTAATATATTATATTATGGA TAATATAATATATTATATTATGGATAATCTAATATATTATATTATGGATA ATCTAATATATTATATTATGGATAATATATTATATTATGGATAATATATT ATATTATGGATAATATAATATATTATATTATGGATAATATATTATATTAT GGATAATATAATATATTATATTATGGATAATATATTATATTATGGATAAT ATAATATATTATATTATGGATAATATATTATATTATGGATAATATAATAT ATTATATTATGGATAATATATTATATTATGGATAATATAATATATTATAT TATGGATAATATAATATATTATATTATGGATAATATATTATATTATGGAT AATATATTATATTATGGATAATATAATATATTATATTATGGATAATATAT TATATTATGGATAATATAATATATTATATTATGGATAATATATTATATTA TGGATAATATAATATATTATGGATAATATATTATATTATGGATAATATAA TATATTATGGATAATATATTATATTATGGATAATATATTATATTATGGAT AATATATTATATTATGGATAATATATTATATTATGGATAATATAATATAT TATATTATGGATAATATATTATATTATGGATAATATAATATATTATATTA TGGATAATATATTATATTATGGATAATATAATATATTATATTATGGATAA TATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0153 a0001c0001t0022g0153	1	160	0.0063	1054	c.389 others(1075): Show c.389-154324_389-154323insATTATATTATGGATAATATAATAT ATTATATTATATTATGGATAATATAATATATTATATTATATTATGGATAA TCTAATATATTATATTATATTATGGATAATCTAATATATTATATTATGGA TAATCTAATATATTATATTATATTATGGATAATCTAATATATTATATTAT GGATAATATAATATATTATATTATGGATAATCTAATATATTATATTATGG ATAATCTAATATATTATATTATGGATAATATATTATATTATGGATAATAT ATTATATTATGGATAATATAATATATTATATTATGGATAATATATTATAT TATGGATAATATAATATATTATATTATGGATAATATATTATATTATGGAT AATATAATATATTATATTATGGATAATATATTATATTATGGATAATATAA TATATTATATTATGGATAATATATTATATTATGGATAATATAATATATTA TATTATGGATAATATAATATATTATATTATGGATAATATATTATATTATG GATAATATATTATATTATGGATAATATAATATATTATATTATGGATAATA TATTATATTATGGATAATATAATATATTATATTATGGATAATATATTATA TTATGGATAATATAATATATTATGGATAATATATTATATTATGGATAATA TAATATATTATGGATAATATATTATATTATGGATAATATATTATATTATG GATAATATATTATATTATGGATAATATATTATATTATGGATAATATAATA TATTATATTATGGATAATATATTATATTATGGATAATATAATATATTATA TTATGGATAATATATTATATTATGGATAATATAATATATTATATTATGGA TAATATATTATATTATGGATAATATAATATATTATATTATATTATGGATA ATATAATATATTATATTATATTATGGATAATATAATATATTATATTATAT TATGGATAATATAATATATTATATTATATTATGGATAATATAATATATTA TATTATATTATGGATAATATAATATATTAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77322942	T T	TTATATTA others(1047): Show TTATATTATATTATGGATAATATAATATATTATATTATATTATGGATAAT ATAATATATTATATTATGGATAATATAATATATTATATTATATTATGGAT AATCTAATATATTATATTATATTATGGATAATCTAATATATTATATTATA TTATGGATAATATAATATATTATATTATATTATGGATAATATAATATATT ATATTATGGATAATATAATATATTATATTATGGATAATATAATATATTAT ATTATGGATAATATATTATATTATGGATAATATAATATATTATATTATGG ATAATATATTATATTATGGATAATATAATATATTATATTATGGATAATAT ATTATATTATGGATAATATAATATATTATATTATGGATAATATATTATAT TATGGATAATATATTATATTATGGATAATATATTATATTATGGATAATAT AATATATTATATTATGGATAATATAATATATTATATTATGGATAATATAA TATATTATATTATGGATAATATAATATATTATATTATGGATAATATAATA TATTATATTATGGATAATATAATATATTATATTATGGATAATATAATATA TTATATTATGGATAATATAATATATTATATTATGGATAATATAGTATATT ATGGATAATATAATATATTATATTATGGATAATATAATATATTATATTAT GGATAATATAATATATTATATTATGGATAATATAATATATTATATTATGG ATAATATAATATATTATATTATGGATAATATAATATATTATATTATGGAT AATATAATATATTATATTATGGATAATATAATATATTATATTATGGATAA TATAATATATTATATAATATATTATATTATGGATAATATAATATATTATA TAATATATTATATTATGGATAATATAATATATTATATAATATATTATATT ATGGATAATATAATATATTATATTATATTATGGATAATATAATATATTAT ATTATATTATGGATAATATAATATATTATATTATATTATGGATAATATAA TATAA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	160	0.0063	1054	c.389 others(1075): Show c.389-154406_389-154405insGGATAATATAATATATTATATTAT ATTATGGATAATCTAATATATTATATTATATTATGGATAATCTAATATAT TATATTATATTATGGATAATATAATATATTATATTATATTATGGATAATA TAATATATTATATTATGGATAATATAATATATTATATTATGGATAATATA ATATATTATATTATGGATAATATATTATATTATGGATAATATAATATATT ATATTATGGATAATATATTATATTATGGATAATATAATATATTATATTAT GGATAATATATTATATTATGGATAATATAATATATTATATTATGGATAAT ATATTATATTATGGATAATATATTATATTATGGATAATATATTATATTAT GGATAATATAATATATTATATTATGGATAATATAATATATTATATTATGG ATAATATAATATATTATATTATGGATAATATAATATATTATATTATGGAT AATATAATATATTATATTATGGATAATATAATATATTATATTATGGATAA TATAATATATTATATTATGGATAATATAATATATTATATTATGGATAATA TAGTATATTATGGATAATATAATATATTATATTATGGATAATATAATATA TTATATTATGGATAATATAATATATTATATTATGGATAATATAATATATT ATATTATGGATAATATAATATATTATATTATGGATAATATAATATATTAT ATTATGGATAATATAATATATTATATTATGGATAATATAATATATTATAT TATGGATAATATAATATATTATATAATATATTATATTATGGATAATATAA TATATTATATAATATATTATATTATGGATAATATAATATATTATATAATA TATTATATTATGGATAATATAATATATTATATTATATTATGGATAATATA ATATATTATATTATATTATGGATAATATAATATATTATATTATATTATGG ATAATATAATATAATATATTATATTATGGATAATATAATATATTATATTA TATTATGGATAATATAATATATTATATTAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar

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Search Results (Total: 10000 hits)