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
COL18A1_chr21_45400165_45518720	45501744	C C	CAGCCGGT others(294): Show CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGG TCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTC CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC AGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGA CCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAG GGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTC AA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	292	0.0034	301	c.268 others(320): Show c.2684-2211_2684-2210insCCTCTGCAGAAGGACCCTCAGGGGCT CCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGC CGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCAC CTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTC TGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAA GGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCC CAGGGGCTCCACAGCCGGTCACCTC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(294): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAA GGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGG GCAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAG GG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19081.hp2 NA18982.hp2 NA19081.hp2	a0003 a0004 a0003 a0004	a0003c0107 a0004c0060 a0003c0107 a0004c0060	a0003c0107t0001 a0004c0060t0001 a0003c0107t0001 a0004c0060t0001	a0003c0107t0001g0244 a0004c0060t0001g0016 a0003c0107t0001g0244 a0004c0060t0001g0016	2	344	0.0058	301	c.85- others(318): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTT CCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCT TCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCC CCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110497725	C C	CCAGCACA others(294): Show CCAGCACAGCCTCAGTCAGGGGTGAGGATCTGGAGTCAGTCCAGCAGCAC AGCCTCAGTCAGGGGTGAGGATCTGGGGTCAGTCTAGCAGCACAGCCTCA GTCAGGGGTGAGGATCTGGGGTCAGTCTAGCAGCATAGCCTCAGTCAGGG GTGAGGATCTGGGGTCAGTCCAGCAGCACAGCTTCAGTCAGGGGTGAGGA TCTGGGGTCAGTCCACCAGCACAGCCTCAGTCAGGGGTGAGGATCTGGGG TCAGTCCACCAGCACAGCCTCAGTCAGGGGTGAGGATCTGGGGTCAGTCC AG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02965.hp1 HG03139.hp1 others(1): Show HG02723.hp1 HG02965.hp1 HG03139.hp1 HG03486.hp1	a0002 a0002	a0002c0063 a0002c0097 a0002c0111 others(1): Show a0002c0063 a0002c0097 a0002c0111 a0002c0120	a0002c0063t0007 a0002c0097t0015 a0002c0111t0015 others(1): Show a0002c0063t0007 a0002c0097t0015 a0002c0111t0015 a0002c0120t0007	a0002c0063t0007g0147 a0002c0097t0015g0260 a0002c0111t0015g0368 others(1): Show a0002c0063t0007g0147 a0002c0097t0015g0260 a0002c0111t0015g0368 a0002c0120t0007g0029	4	372	0.0108	301	c.376 others(320): Show c.3760+2290_3760+2291insAGTCAGTCCAGCAGCACAGCCTCAGT CAGGGGTGAGGATCTGGGGTCAGTCTAGCAGCACAGCCTCAGTCAGGGGT GAGGATCTGGGGTCAGTCTAGCAGCATAGCCTCAGTCAGGGGTGAGGATC TGGGGTCAGTCCAGCAGCACAGCTTCAGTCAGGGGTGAGGATCTGGGGTC AGTCCACCAGCACAGCCTCAGTCAGGGGTGAGGATCTGGGGTCAGTCCAC CAGCACAGCCTCAGTCAGGGGTGAGGATCTGGGGTCAGTCCAGCAGCACA GCCTCAGTCAGGGGTGAGGATCTGG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	40/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
CORO2A_chr9_98115975_98197637	98142730	A A	AGACAGCT others(294): Show AGACAGCTTCTCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0137 a0001c0001t0003g0137	1	342	0.0029	301	c.202 others(318): Show c.202-5043_202-5042insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAGGAAGAGAAGCTGTC	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	2/11			chr9	TogoVar
CPNE7_chr16_89570758_89602246	89587793	C C	CCCACAGA others(294): Show CCCACAGATACACGGCCCCCGTGTCAGCCACAGATACACGGCCCCCCGTG TCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCC GTGTCAGCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACA GATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCAGCCA CAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCAGC CACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTC AG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0311 a0002c0004t0002g0311	1	348	0.0029	301	c.927 others(316): Show c.927+710_927+711insGTGTCAGCCACAGATACACGGCCCCCCGTG TCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCC GTGTCAGCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACA GATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCAGCCA CAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCAGC CACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTC AGCCACAGATACACGGCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CSMD1_chr8_2930361_4999914	3558326	A A	ATGCCTCA others(294): Show ATGCCTCAGTAGTACCCCGTGTCCACTCCTCCAATGATGAACGGTGTCTC AATGGTACCCCGTGTCCACTCCTGCAATGATGAACGGTGCCTCAATGGTA CCCCATGTCGACTCCTCCAACGATGAACGGTGTCTCAATGGTACCCCGTG TCCACTCCTGCAATGATGAATGGTGCCTCAATAGTACCCCGTGTCCACTC CTCCAATGATGAATGGTGCCTCAATGGTACCCCGTGTCCACTCCTGCAAT GATGAATGGTGCCTCAATAGTACCCCGTGTCCACTCCTCCAATGATGAAT GG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0061 a0001c0061	a0001c0061t0001 a0001c0061t0001	a0001c0061t0001g0021 a0001c0061t0001g0021	1	126	0.0079	301	c.134 others(322): Show c.1344+16618_1344+16619insCCATTCATCATTGGAGGAGTGGAC ACGGGGTACTATTGAGGCACCATTCATCATTGCAGGAGTGGACACGGGGT ACCATTGAGGCACCATTCATCATTGGAGGAGTGGACACGGGGTACTATTG AGGCACCATTCATCATTGCAGGAGTGGACACGGGGTACCATTGAGACACC GTTCATCGTTGGAGGAGTCGACATGGGGTACCATTGAGGCACCGTTCATC ATTGCAGGAGTGGACACGGGGTACCATTGAGACACCGTTCATCATTGGAG GAGTGGACACGGGGTACTACTGAGGCA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3558336	A A	AGTACCCC others(294): Show AGTACCCCGTGTCCACTCCTCCAATGATGAATGGTGCCTCAATGGTACCC CGTGTCCACCCCTCCAATGATGAACGGTGCCTCAATGGTACCCCGTGTCC ACTCCTGCAATGATGAATAGTGTCTCAATAGTACCCCATGTCCACTCCTC CAATGATGAACGGTGCCTCAATGGTACCCCGTGTCCACTCCTGCAATGAT GAATAGTGTCTCAATAGTACCCCATGTCCACTCCTCCAATGATGAACGGT GCCTCAATGGTACCCCATGTCGACTCCTCCAACGATGAACGGTGTCTCAA TG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0053 a0001c0003t0008g0053	1	126	0.0079	301	c.134 others(322): Show c.1344+16608_1344+16609insCATTGAGACACCGTTCATCGTTGG AGGAGTCGACATGGGGTACCATTGAGGCACCGTTCATCATTGGAGGAGTG GACATGGGGTACTATTGAGACACTATTCATCATTGCAGGAGTGGACACGG GGTACCATTGAGGCACCGTTCATCATTGGAGGAGTGGACATGGGGTACTA TTGAGACACTATTCATCATTGCAGGAGTGGACACGGGGTACCATTGAGGC ACCGTTCATCATTGGAGGGGTGGACACGGGGTACCATTGAGGCACCATTC ATCATTGGAGGAGTGGACACGGGGTAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3558454	A A	AGTGCCTC others(294): Show AGTGCCTCAGTAGTACCCCGTATCCCCTCCTCCAATGACAAATAGTGCCT CAATAGTACCCTGTGTCCACTCCTCCAGTGATGAATGGTGCCTCAATGGA ACTCCGTGTTCACTCCTCCAATGATGAATGATGCCTCAGTAGTACCCCGT GTCCACTCCTCCAATGATGAATGGTGCCTCAATGGTACCCCGTGTCCACC CCTCCAATGATGAACGGTGCCTCAATGGAACTCCGTGTTCACTCCTCCAA TGATGAATGGTGCCTCAGTAGTACCCCGTGTCCACTTCTCCAATGATGAA CG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0079 a0001c0079	a0001c0079t0072 a0001c0079t0072	a0001c0079t0072g0113 a0001c0079t0072g0113	1	126	0.0079	301	c.134 others(322): Show c.1344+16490_1344+16491insCGTTCATCATTGGAGAAGTGGACA CGGGGTACTACTGAGGCACCATTCATCATTGGAGGAGTGAACACGGAGTT CCATTGAGGCACCGTTCATCATTGGAGGGGTGGACACGGGGTACCATTGA GGCACCATTCATCATTGGAGGAGTGGACACGGGGTACTACTGAGGCATCA TTCATCATTGGAGGAGTGAACACGGAGTTCCATTGAGGCACCATTCATCA CTGGAGGAGTGGACACAGGGTACTATTGAGGCACTATTTGTCATTGGAGG AGGGGATACGGGGTACTACTGAGGCAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSNKA2IP_chr3_88333456_88472594	88428992	T T	TAAAATTT others(294): Show TAAAATTTTAGCAAATTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGC AGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0111 a0004c0005t0001g0111	1	386	0.0026	301	c.-27 others(322): Show c.-270-36081_-270-36080insTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG TGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAATTTTAGCAAAT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CTNND2_chr5_10966836_11909446	11391150	T T	TAAGAAAG others(294): Show TAAGAAAGGCAGGATATTCTCACTCATAGGTGGGAATTGAACAATGAGAT CACATGGACACAGGAAGGGGAATATCACACTGTGGGGACTGTGGTGGGGT CGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGA CACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAAC TAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAAAAAAAA AAAAAAAAAAAAATTTAACAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0025 a0001c0006t0002g0025	1	26	0.0385	301	c.612 others(318): Show c.612+5880_612+5881insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTCTGTTAAATTTTTTTTTTTTTTTTTTTTTATACTCTAAGTTTTAGGG TACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGC TGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCA ATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCACAGTGTGA TATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATG AGTGAGAATATCCTGCCTTTCTT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	6/21			chr5	TogoVar
DCAF12_chr9_34081387_34131698	34115452	G G	GGCTGGGC others(294): Show GGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGA GGCGGGCGGATCACGTGGTCAGATCGAGACCATCCTGGCTAACATGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGCAGTGGTGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCACACCACTGTATTCCAG CCTGGGCCACAGAATGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02630.hp2 HG03516.hp1 others(2): Show HG00621.hp2 HG02630.hp2 HG03516.hp1 HG03540.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0044 a0001c0001t0008g0029 a0001c0001t0008g0030 others(2): Show a0001c0001t0001g0044 a0001c0001t0008g0029 a0001c0001t0008g0030 a0001c0001t0008g0083 a0001c0001t0008g0084	5	370	0.0135	301	c.334 others(318): Show c.334-7888_334-7887insTTTTTTTTTTTTTTTTTTTTTTTTGAGA TGGCGTCTCATTCTGTGGCCCAGGCTGGAATACAGTGGTGTGATCTCAGC TCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCACCACTGCGCCTGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCG ATCTGACCACGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTAC AGGTGTGAGCCACCGTGCCCAGC	DCAF12	ENSG00000198876.13	transcript	ENST00000361264.9	protein_coding	2/8			chr9	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(294): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGGAG GGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGGAGGGG AGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGG GGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGA GG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0032 a0003c0003t0005g0032	1	216	0.0046	301	c.923 others(320): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCACTCC CCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCC CCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCCTCCCTTCATTC CTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DGKB_chr7_14140049_14907751	14211960	T T	TATTTACT others(294): Show TATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACT CTCATGTTTTGTGATATTTACTCTCGTGTTTTGTGATTTTACTCTCATGT TTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGA TTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACT CTCATGTTTTGTGATTTTACTCTCATGCTTTGTGATATTTACTCTCATGT TTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGA TA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0068 a0001c0002t0040g0068	1	148	0.0068	301	c.212 others(322): Show c.2123-33810_2123-33809insTATCACAAAACATGAGAGTAAATA TCACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAATATCACAAA GCATGAGAGTAAAATCACAAAACATGAGAGTAAATATCACAAAACATGAG AGTAAAATCACAAAACACGAGAGTAAAATCACAAAACACGAGAGTAAAAT CACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAA CACGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAACATGAGA GTAAAATCACAAAACATGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DIP2C_chr10_269201_694668	478371	G G	GGGGAGGG others(294): Show GGGGAGGGGCCGGCGCTGTCGGGCTGGGGAGGGCGGCCTCCGTGCGTGGG CTGTGGCGCCTCCTTGCTGGGCGTTCGGGGAGGTCTGGCGCCGCCGGGAG GGCGAGGCGGGCGGGCGAGCTGGCTGGCGCCTGGCTGGCGCGAGGCGCGG AGCGGGAGGGAGGGGAGGGGAGAGCGGTCCGGGGCGGGGAGGTCGGGGTC TGGGTCGTCGCCGGGAGCCGGAGGGCGGGAGGGGAGGGCGGAGGGGAGGG AGGGAGGAGAGGAGGAGAGAAGGAGAGGGGCGGGGCGGGGCAGGGCGGGG CA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0054 a0001c0003t0002g0054	1	88	0.0114	301	c.158 others(318): Show c.158-5823_158-5822insTGCCCCGCCCTGCCCCGCCCCGCCCCTC TCCTTCTCTCCTCCTCTCCTCCCTCCCTCCCCTCCGCCCTCCCCTCCCGC CCTCCGGCTCCCGGCGACGACCCAGACCCCGACCTCCCCGCCCCGGACCG CTCTCCCCTCCCCTCCCTCCCGCTCCGCGCCTCGCGCCAGCCAGGCGCCA GCCAGCTCGCCCGCCCGCCTCGCCCTCCCGGCGGCGCCAGACCTCCCCGA ACGCCCAGCAAGGAGGCGCCACAGCCCACGCACGGAGGCCGCCCTCCCCA GCCCGACAGCGCCGGCCCCTCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DLEC1_chr3_38034208_38129025	38084401	A A	AGTGGTGG others(294): Show AGTGGTGGTGGTAGTAGTAGTAGTGGTGGTGGTGGTGGTAGTAGTAGTAA TAGTAGTGGTGGTGGTGGTAGTAGTGGTGGTAGTAGTAGTGGTAGTAGTA GTGGTAGTAGTAGTAGTGGTGGTGGTAGTGGTAGTAGTAGTGGTAGTAGT AGTAGTGGGGGGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGT AGTAGTGGTGGTGGTAGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGGGG GGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTAGTGGTGG TG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0152	1	298	0.0034	301	c.126 others(318): Show c.1261+176_1261+177insAGTGGTGGTGGTGGTGGTAGTAGTAGTA ATAGTAGTGGTGGTGGTGGTAGTAGTGGTGGTAGTAGTAGTGGTAGTAGT AGTGGTAGTAGTAGTAGTGGTGGTGGTAGTGGTAGTAGTAGTGGTAGTAG TAGTAGTGGGGGGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAG TAGTAGTGGTGGTGGTAGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGGG GGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTAGTGGTG GTGGTGGTGGTGGTAGTAGTAGT	DLEC1	ENSG00000008226.20	transcript	ENST00000308059.11	protein_coding	7/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAATAT others(294): Show AAAAATATATATATATATATATATATATACACATACATATACATATATAC ACATACATATACATATATACACATACATATACATATATACACATACATAT ATATATACATATATATACATATATATATACGTATATATATATACGTGTAT ATATATACACGTATATATATATACGTGTGTATATATACACATATATATAT ACACATATATATATATACACATATATATATACACATATATATATATACAC ATATATATATATACACATATATATATACACACATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0040 a0004c0004t0001g0040	1	266	0.0038	301	c.730 others(320): Show c.7305+1447_7305+1448insATATATATATATATATATATGTGTGT ATATATATATGTGTATATATATATATGTGTATATATATATATGTGTATAT ATATATGTGTATATATATATATGTGTATATATATATGTGTATATATACAC ACGTATATATATATACGTGTATATATATACACGTATATATATATACGTAT ATATATATGTATATATATGTATATATATATGTATGTGTATATATGTATAT GTATGTGTATATATGTATATGTATGTGTATATATGTATATGTATGTGTAT ATATATATATATATATATATATTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	ATATATAT others(294): Show ATATATATATATATATATATATATATACACATACATATACATATATACAC ATACATATACATATATACACATACATATACATATATACACATACATATAT ATATACATATATATACATATATATATACGTATATATATATACGTGTATAT ATATACACGTATATATATATACGTGTGTATATATACACATATATATATAC ACATATATATATATACACATATATATACACATATATATATATACACATAT ATATATATACACATATATATATACACACATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA19005.hp2 NA18982.hp1 NA19005.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0074 a0004c0004t0001g0094 a0004c0004t0001g0074 a0004c0004t0001g0094	2	266	0.0075	301	c.730 others(320): Show c.7305+1447_7305+1448insATATATATATATATATATATATATGT GTGTATATATATATGTGTATATATATATATGTGTATATATATATATGTGT ATATATATGTGTATATATATATATGTGTATATATATATGTGTATATATAC ACACGTATATATATATACGTGTATATATATACACGTATATATATATACGT ATATATATATGTATATATATGTATATATATATGTATGTGTATATATGTAT ATGTATGTGTATATATGTATATGTATGTGTATATATGTATATGTATGTGT ATATATATATATATATATATATATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	ATATATAT others(294): Show ATATATATATATATATATATATATATACACATACATATACATATATACAC ATACATATACATATATACACATACATATACATATATACACATACATATAT ATATACATATATATACATATATATATACGTATATATATATACGTGTATAT ATATACACGTATATATATATACGTGTGTATATATACACATATATATATAC ACATATATATATATACACATATATATATACACATATATATATATACACAT ATATATATATACACATATATATATACACACATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG03239.hp2 NA18981.hp2 HG01256.hp1 HG03239.hp2 NA18981.hp2	a0004 a0010 a0028 a0004 a0010 a0028	a0004c0004 a0010c0015 a0028c0021 a0004c0004 a0010c0015 a0028c0021	a0004c0004t0001 a0010c0015t0001 a0028c0021t0001 a0004c0004t0001 a0010c0015t0001 a0028c0021t0001	a0004c0004t0001g0099 a0010c0015t0001g0243 a0028c0021t0001g0092 a0004c0004t0001g0099 a0010c0015t0001g0243 a0028c0021t0001g0092	3	266	0.0113	301	c.730 others(320): Show c.7305+1447_7305+1448insATATATATATATATATATATATGTGT GTATATATATATGTGTATATATATATATGTGTATATATATATATGTGTAT ATATATATGTGTATATATATATATGTGTATATATATATGTGTATATATAC ACACGTATATATATATACGTGTATATATATACACGTATATATATATACGT ATATATATATGTATATATATGTATATATATATGTATGTGTATATATGTAT ATGTATGTGTATATATGTATATGTATGTGTATATATGTATATGTATGTGT ATATATATATATATATATATATATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DOCK5_chr8_25179689_25420711	25315130	A A	AATATAAA others(294): Show AATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTC TGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0011 a0011	a0011c0042 a0011c0042	a0011c0042t0004 a0011c0042t0004	a0011c0042t0004g0092 a0011c0042t0004g0092	1	210	0.0048	301	c.131 others(320): Show c.1319-1873_1319-1872insAAAAATTCTTTTTTTTTTTTTTTTTT TTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCATAT	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	13/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPEP1_chr16_89608642_89643433	89619474	C C	CCTGCAGC others(294): Show CCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC CGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCT CCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCC CCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCTGCTCCCCTCCCTGCAGC TCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCT GT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0206 a0002c0002t0001g0206	1	250	0.0040	301	c.-10 others(320): Show c.-107+5774_-107+5775insCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCA GCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTC CCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTG CCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCTGCTCCCCTCCCTG CAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTC CCCTGTCTGCAGCCCCCTGCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPYSL2_chr8_26509031_26663175	26556354	A A	ATATATAT others(294): Show ATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATAT ATATAGTGTATATATATAGTATATATATATAGTGTATATATATAGTATAT ATATAGTATATATATAGTATATATAGTATATATGTATATATATATAGTAT ATATATAGTATATATATATAGTATATATATAGTATATATATATAGTATAT ATATAGTATATATATATAGTATATATATAGTATATATATATAGTATATAT ATATAGTATATATATAGTATATATATAGTATATATATATAGTATATATAT AG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0172 a0001c0010t0001g0172	1	316	0.0032	301	c.355 others(320): Show c.355-25607_355-25606insGTATATATATAGTATATATATAGTAT ATATATAGTATATATATATAGTGTATATATATAGTATATATATATAGTGT ATATATATAGTATATATATAGTATATATATAGTATATATAGTATATATGT ATATATATATAGTATATATATAGTATATATATATAGTATATATATAGTAT ATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATAT ATATATAGTATATATATATAGTATATATATAGTATATATATAGTATATAT ATATAGTATATATATAGTATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DYNC2I1_chr7_158851558_158951189	158915965	A A	ACATGAAG others(294): Show ACATGAAGGATGATTGTGAAACGTTTACACGCTGGTTGACATTAAGGATG ATTGTGAAACGTCGACATGCTGGTTGACATTAAGAATGATTGTGAAACCT CGACACGGTGGTTGACATTAAGGATGATTGTGAAACCTCAACACGCTGGT TGAGATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGAGATTAAGGA TGATTGTGAAACGACACGCTGGTTGACATTAAGGATGATTGTGAAACCTC GACACGGTGGTTGAGATTAAGGATGATTGTGAAACATCAACACGCTGGTT GG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0055 a0002c0002t0001g0055	1	274	0.0037	301	c.179 others(320): Show c.1791+1647_1791+1648insGAAGGATGATTGTGAAACGTTTACAC GCTGGTTGACATTAAGGATGATTGTGAAACGTCGACATGCTGGTTGACAT TAAGAATGATTGTGAAACCTCGACACGGTGGTTGACATTAAGGATGATTG TGAAACCTCAACACGCTGGTTGAGATTAAGGATGATTGTGAAACGTCGAC ACGCTGGTTGAGATTAAGGATGATTGTGAAACGACACGCTGGTTGACATT AAGGATGATTGTGAAACCTCGACACGGTGGTTGAGATTAAGGATGATTGT GAAACATCAACACGCTGGTTGGCAT	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
EBF2_chr8_25836725_26050413	25956110	C C	CATTATTC others(294): Show CATTATTCCTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCC CA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0126	1	220	0.0046	301	c.552 others(320): Show c.552-47556_552-47555insTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAATAAAAAAGGAATAAT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
ELMO1_chr7_36847906_37453864	37292711	G G	GCAGCCGC others(294): Show GCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCATCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02965.hp1 HG04228.hp2 others(1): Show HG02717.hp1 HG02965.hp1 HG04228.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012	a0001c0001t0004g0007 a0001c0001t0005g0075 a0001c0001t0006g0008 others(1): Show a0001c0001t0004g0007 a0001c0001t0005g0075 a0001c0001t0006g0008 a0001c0001t0012g0066	4	92	0.0435	301	c.193 others(320): Show c.193-20830_193-20829insGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGCGGCTG GCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC ACCTCCCTCCCGGACGGGGCGGCTG	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	4/21			chr7	TogoVar
ELOVL5_chr6_53262404_53353950	53302665	T T	TAAGAATT others(294): Show TAAGAATTATATTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGC GGGCGGATCACGAGGTCAGGAAATCGAGACCATCCTGGCTAACACGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGACGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG01099.hp1 others(11): Show HG00323.hp1 HG00738.hp1 HG01099.hp1 HG01943.hp1 HG01952.hp2 HG01978.hp2 HG02056.hp2 HG02129.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 NA18946.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0170 others(11): Show a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0011g0194	14	320	0.0438	301	c.-8- others(316): Show c.-8-6959_-8-6958insTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGTCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT TTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAAATATAATTCTT	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ENG_chr9_127810016_127859658	127834835	T T	TAGGTTGG others(294): Show TAGGTTGGTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	344	0.0029	301	c.220 others(318): Show c.220-5009_220-5008insCACTTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAATAACCAACCT	ENG	ENSG00000106991.14	transcript	ENST00000373203.9	protein_coding	2/14			chr9	TogoVar
ENY2_chr8_109329347_109350954	109337068	T T	TCATTTAA others(294): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03225.hp2 HG03516.hp1 HG03130.hp1 HG03225.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0092 a0001c0001t0006g0030 a0001c0001t0001g0092 a0001c0001t0006g0030	3	428	0.0070	301	c.83+ others(314): Show c.83+877_83+878insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG CGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAA GTGCTGCATTTAAAGTTTT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
EPSTI1_chr13_42881388_42997241	42885377	T T	TAAAAAAA others(294): Show TAAAAAAAAAAAAAAAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAA AA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 NA18949.hp2 HG02148.hp1 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0023 a0001c0001t0014 a0001c0002t0023	a0001c0001t0014g0298 a0001c0002t0023g0100 a0001c0001t0014g0298 a0001c0002t0023g0100	2	352	0.0057	301	c.31 others(312): Show c.3116_*3117insTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCTTTTTTTTTTTTTTT	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding		1010		chr13	TogoVar
EXD1_chr15_41177728_41235757	41197837	G G	GGTTAAGC others(294): Show GGTTAAGCGGGGTCTTGCAGGACCTGGGCACCAATAGAATCCAGACCACA GTGTCCCCATCCCCCAGTTGAGGAAACTCATAGGATGGGACCCAAAGAAG CAGGAGGGCCCAAACTCGGTGGCTCATGCCTGTAATCCCAGCACTTTGCA AGGCCGAGGTGGACGGATCACCTGAGGTCAGGAGTTCTAGACCAGCCTGG CCAACATGGCAAAAACCTGTCTCTACTAAAAATACACAAATTGGCTGGGC ATGGTGGTGTACACCTATAGTCCCAGCTACTCGGGAGGCTGAGACAGAAG AA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0312 a0001c0002t0001g0312	1	318	0.0031	301	c.535 others(318): Show c.535-1801_535-1800insTTCTTCTGTCTCAGCCTCCCGAGTAGCT GGGACTATAGGTGTACACCACCATGCCCAGCCAATTTGTGTATTTTTAGT AGAGACAGGTTTTTGCCATGTTGGCCAGGCTGGTCTAGAACTCCTGACCT CAGGTGATCCGTCCACCTCGGCCTTGCAAAGTGCTGGGATTACAGGCATG AGCCACCGAGTTTGGGCCCTCCTGCTTCTTTGGGTCCCATCCTATGAGTT TCCTCAACTGGGGGATGGGGACACTGTGGTCTGGATTCTATTGGTGCCCA GGTCCTGCAAGACCCCGCTTAAC	EXD1	ENSG00000178997.12	transcript	ENST00000458580.7	protein_coding	7/11			chr15	TogoVar
EXD1_chr15_41177728_41235757	41204247	C C	CAAAAAAA others(294): Show CAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGG CTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0107 a0001c0005t0001g0107	1	318	0.0031	301	c.534 others(318): Show c.534+5253_534+5254insTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTTTTTTTT	EXD1	ENSG00000178997.12	transcript	ENST00000458580.7	protein_coding	7/11			chr15	TogoVar
F10_chr13_113117799_113154529	113154196	G G	GAGGCGGG others(294): Show GAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGG GCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCG GGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGG GCGCGGGGGAGGAGGGGCGTGGGGGGGCGGGCCGTGGGGGAGGAGGGGCG TGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGG GGAGGCGGGGCGCGGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGG GA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0301 a0001c0002t0001g0301	1	412	0.0024	301	c.46 others(312): Show c.4679_*4680insAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGC GGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGG GGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGG CGCGGGGGAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGGCGGGCCGT GGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGT GACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGGAGGCGGGGCGCGGGGG AGGCGGGGCGCGGGGGA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4668		chr13	TogoVar
F10_chr13_113117799_113154529	113154196	G G	GAGGCGGG others(294): Show GAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGG GCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCG GGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGG GCGCGGGGGAGGAGGGGCGTGGGGGGGCGGGCCGTGGGGGAGGAGGGGCG TGGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGG GGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGG GA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0221 a0001c0002t0001g0221	1	412	0.0024	301	c.46 others(312): Show c.4679_*4680insAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGC GGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGG GGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGG CGCGGGGGAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGGCGGGCCGT GGGGGAGGAGGGGCGTGGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACG TGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGG AGGCGGGGCGCGGGGGA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4668		chr13	TogoVar
F10_chr13_113117799_113154529	113154196	G G	GAGGCGGG others(294): Show GAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGG GCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCG GGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGG GCGCGGGGGAGGAGGGGCGTGGGGGGGCGGGGCCGTGGGGGAGGAGGGGC GTGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGG GGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGG GA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	412	0.0024	301	c.46 others(312): Show c.4679_*4680insAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGC GGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGG GGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGG CGCGGGGGAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGGCGGGGCCG TGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACG TGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGG AGGCGGGGCGCGGGGGA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4668		chr13	TogoVar
F10_chr13_113117799_113154529	113154196	G G	GAGGCGGG others(294): Show GAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGG GCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCG GGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGG GCGCGGGGGAGGAGGGGCGTGGGGGGGGCGGGCCGTGGGGGAGGAGGGGC GTGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGG GGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGG GA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0176 a0001c0002t0001g0176	1	412	0.0024	301	c.46 others(312): Show c.4679_*4680insAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGC GGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGG GGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGG CGCGGGGGAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGGGCGGGCCG TGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACG TGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGG AGGCGGGGCGCGGGGGA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4668		chr13	TogoVar
FAM13A_chr4_88720960_89062185	88837415	T T	TAAGAATA others(294): Show TAAGAATATAGTCAGCCCTTGGGAGGCCGAGGCGGGTGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCTT GCAGTGAGCCGAGATTGCGCCATTGCAGTCCGCAGTCCGGCCTGGGCAAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0010 a0002c0007t0010	a0002c0007t0010g0010 a0002c0007t0010g0010	1	208	0.0048	301	c.100 others(322): Show c.1007+13604_1007+13605insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGA CTGCAATGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCTGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGC CACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC TTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTC GGCCTCCCAAGGGCTGACTATATTCTT	FAM13A	ENSG00000138640.15	transcript	ENST00000264344.10	protein_coding	7/23			chr4	TogoVar
FARP1_chr13_98138094_98460176	98198909	C C	CCTGCTCC others(294): Show CCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCTTCCCTGCTCCGCTCCC CCTCCCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTCCGC TCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTTCCCCCCCGCCCCTCCCC GCTCCCCCACTCTGCCCCTCCCCGCCCCCCTGCCCCTCCCCGCTTCCCCC TCTGCCCCTCCCCGCTTCCCCCTCTGCCCCTCCCCGCTTCCCCTTCTGCC CCTCCCCGCTCCCGCTGCTCCCTCCCCCTCCATCCCTTCCCCCTCCCCTC CA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01109.hp2 HG01099.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0003 a0001c0001t0004 a0001c0002t0003	a0001c0001t0004g0179 a0001c0002t0003g0202 a0001c0001t0004g0179 a0001c0002t0003g0202	2	218	0.0092	301	c.-23 others(320): Show c.-23-14310_-23-14309insTGCTCCGCTCCCCCTCCCTGCTCCGC TCCCCTTCCCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCT CCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCC TGCTTCCCCCCCGCCCCTCCCCGCTCCCCCACTCTGCCCCTCCCCGCCCC CCTGCCCCTCCCCGCTTCCCCCTCTGCCCCTCCCCGCTTCCCCCTCTGCC CCTCCCCGCTTCCCCTTCTGCCCCTCCCCGCTCCCGCTGCTCCCTCCCCC TCCATCCCTTCCCCCTCCCCTCCAC	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FGGY_chr1_59292094_59767730	59588595	C C	CAGAAACC others(294): Show CAGAAACCCTACAAGCCAGTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0103 a0007c0007t0001g0103	1	166	0.0060	301	c.904 others(320): Show c.904-19190_904-19189insTTGGGAGGCCGAGGCGGGCGGATCAC GAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTC CCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCG GAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAA AAAAAAAAGAAACCCTACAAGCCAG	FGGY	ENSG00000172456.18	transcript	ENST00000303721.12	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
FIG4_chr6_109686296_109830426	109781773	C C	CAGATTTT others(294): Show CAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTG CT	intron_variant intron_variant	MODIFIER	HG01169.hp1 NA18962.hp2 HG01169.hp1 NA18962.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0002 a0004c0006t0001 a0001c0001t0002 a0004c0006t0001	a0001c0001t0002g0227 a0004c0006t0001g0307 a0001c0001t0002g0227 a0004c0006t0001g0307	2	370	0.0054	301	c.189 others(320): Show c.1890-3191_1890-3190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGC GGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC TGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGC CTCGGCCTCCCAAAGTGCTAGATTT	FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
GABRA2_chr4_46238548_46395128	46378034	G G	GGGGGGTT others(294): Show GGGGGGTTCAGCCCCCCACCCGGCCAGCCGCCCCATCAGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CTAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCGCCATCCAGGAGGG AGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0187 a0001c0002t0187	a0001c0002t0187g0244 a0001c0002t0187g0244	1	258	0.0039	301	c.187 others(318): Show c.187+8039_187+8040insACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCACCTCCCTCCTGGATGGCGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCTGGACGGGGCGGCTAGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCTGATGGGGCGGCTG GCCGGGTGGGGGGCTGAACCCCC	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	3/9			chr4	TogoVar
GALNT14_chr2_30905467_31143440	31062724	T T	TTGTTTCA others(294): Show TTGTTTCATGACTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	226	0.0044	301	c.130 others(320): Show c.130-69718_130-69717insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAGTCATGAAACA	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	1/14			chr2	TogoVar
GALNT18_chr11_11265877_11627005	11363907	A A	AGACTGGA others(294): Show AGACTGGAAAGACAAATTAACCAACTGAATCTTGATTCAAGCAAACAAAT TGTATAACAAAACAAAAACTTATGAGAGAATTAGAAAAATGTGTATACTA GAATGTTTCACAGTATTACAGTATTCTTTTCAACTCTTTTAGGACTGAAA ATAGCATTGTGGCCATGGTTCTTTAAAAGTCCTTATCTATTTTGGATGCA TACTGAAATATTTTTGATGAAATGATATGATGTCTGGGATTTCCCTCAAA ATAACTAGAGTTAGGTGGGGGATTAGGCAGAGGTAAAGATGAAACCAAAT TG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02257.hp2 HG02717.hp2 others(4): Show HG01243.hp2 HG02257.hp2 HG02717.hp2 HG02896.hp1 HG02897.hp2 HG03209.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0001c0015 a0001c0019	a0001c0001t0001 a0001c0004t0001 a0001c0006t0002 others(2): Show a0001c0001t0001 a0001c0004t0001 a0001c0006t0002 a0001c0015t0001 a0001c0019t0005	a0001c0001t0001g0180 a0001c0001t0001g0246 a0001c0001t0001g0247 others(4): Show a0001c0001t0001g0180 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0004t0001g0144 a0001c0006t0002g0029 a0001c0015t0001g0229 a0001c0019t0005g0008	7	260	0.0269	301	c.109 others(320): Show c.1092+8607_1092+8608insCAATTTGGTTTCATCTTTACCTCTGC CTAATCCCCCACCTAACTCTAGTTATTTTGAGGGAAATCCCAGACATCAT ATCATTTCATCAAAAATATTTCAGTATGCATCCAAAATAGATAAGGACTT TTAAAGAACCATGGCCACAATGCTATTTTCAGTCCTAAAAGAGTTGAAAA GAATACTGTAATACTGTGAAACATTCTAGTATACACATTTTTCTAATTCT CTCATAAGTTTTTGTTTTGTTATACAATTTGTTTGCTTGAATCAAGATTC AGTTGGTTAATTTGTCTTTCCAGTC	GALNT18	ENSG00000110328.6	transcript	ENST00000227756.5	protein_coding	6/10			chr11	TogoVar
GDF2_chr10_47317454_47332588	47319409	T T	TAAATTTT others(294): Show TAAATTTTATCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp2 NA18994.hp1 NA19064.hp2 others(2): Show NA18959.hp2 NA18994.hp1 NA19064.hp2 NA19083.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	5	424	0.0118	301	c.-32 others(312): Show c.-3260_-3259insAAATTTTATCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAA	GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding		3044		chr10	TogoVar
GEMIN4_chr17_739421_757264	749036	G G	GAGCAATC others(294): Show GAGCAATCACACGGCCACAGGATAATGGGCACAGAGCAATCACACAGCCA CAGGGTAATGGGCACAGAGCAATCACACAGCCACAGGGTAATGGGCACAG CAGCAATCACACAGCCACAGGATAATGGGCACAGCAGCAATCACACAGCC ACAGGGTAATGGGCACAGAAGCAATCACACGGCTACAGGATAATGGGCAC AGAGCAATCACACAGCCACAGGATAATGGGCACAGAGCAATCACACGGCC ACAGGATAATGGGCACAGAGCAATCACACGGCCACAGGGTAATGGGCACA GC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG00642.hp2 others(66): Show HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01978.hp2 HG02055.hp2 HG02074.hp2 HG02132.hp2 HG02486.hp2 HG02738.hp2 HG02886.hp2 HG03490.hp1 HG03579.hp2 HG03669.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 NA18906.hp1 NA18940.hp1 NA18942.hp1 NA18944.hp2 NA18946.hp1 NA18948.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18986.hp1 NA19002.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19070.hp2 NA19079.hp1 NA19084.hp1 NA19090.hp1 NA19240.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0003 a0009 a0013 a0003 a0009 a0013	a0003c0002 a0003c0042 a0003c0043 others(2): Show a0003c0002 a0003c0042 a0003c0043 a0009c0012 a0013c0018	a0003c0002t0002 a0003c0002t0006 a0003c0042t0002 others(3): Show a0003c0002t0002 a0003c0002t0006 a0003c0042t0002 a0003c0043t0002 a0009c0012t0002 a0013c0018t0002	a0003c0002t0002g0002 a0003c0002t0002g0014 a0003c0002t0002g0035 others(6): Show a0003c0002t0002g0002 a0003c0002t0002g0014 a0003c0002t0002g0035 a0003c0002t0002g0092 a0003c0002t0006g0037 a0003c0042t0002g0093 a0003c0043t0002g0094 a0009c0012t0002g0019 a0013c0018t0002g0036	69	434	0.1590	301	c.11- others(316): Show c.11-1005_11-1004insGCTGTGCCCATTACCCTGTGGCCGTGTGAT TGCTCTGTGCCCATTATCCTGTGGCCGTGTGATTGCTCTGTGCCCATTAT CCTGTGGCTGTGTGATTGCTCTGTGCCCATTATCCTGTAGCCGTGTGATT GCTTCTGTGCCCATTACCCTGTGGCTGTGTGATTGCTGCTGTGCCCATTA TCCTGTGGCTGTGTGATTGCTGCTGTGCCCATTACCCTGTGGCTGTGTGA TTGCTCTGTGCCCATTACCCTGTGGCTGTGTGATTGCTCTGTGCCCATTA TCCTGTGGCCGTGTGATTGCT	GEMIN4	ENSG00000179409.11	transcript	ENST00000319004.6	protein_coding	1/1			chr17	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(294): Show GGGAGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGG GAGGGGAAGGGAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGG GAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGA GGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGG GGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGAAGGG AGGGAGGGAGGGAAGGAAGGAAGGGAGGGAGGGGAAGGAAGGGAGGGAGG GA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0151 a0001c0001t0005g0151	1	188	0.0053	301	c.229 others(320): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCCC TTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCC TCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTC CCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCTC CCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTTCC CCTCCCTCCCTCCCTCCCTTCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GPIHBP1_chr8_143208218_143222170	143218085	C C	CCCCCACA others(294): Show CCCCCACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCC CCAACACCACCCCCAACACCACCCCCAACACCATCCCCAACACCACCCCC AACACCACCCAACACCACCCCCAACACCACCCAACACCACCCCACACCAC CCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCACCCC CAACACCACCCCAACACCACCCCCAACACCATCCCCAACACCACCCCCAA CACCACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACAC CA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0009 a0001c0004t0011g0009	1	106	0.0094	301	c.25 others(312): Show c.2567_*2568insCCCCACACCACCCCCAACACCACCCCCAACACCA CCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCATC CCCAACACCACCCCCAACACCACCCAACACCACCCCCAACACCACCCAAC ACCACCCCACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCA CCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCATCCC CAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAA CACCACCCCCAACACCA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		916		chr8	TogoVar
GRIK3_chr1_36790527_37039515	36957454	T T	TGTGAGCC others(294): Show TGTGAGCCTGTGTGCCCTGTGACTCTGTGCCCTGTGAGCCTGTGTGCCCC ATGACTCTGTGCCCCTTGAGTCTGTGTGCCCGTGAGTCTCTGCCCCATGA GCCTGTGTGCTCTGAATCTGTGCCCCGTGAGCCTGTGTGCTCCGTGAGTC TGTGCCCCGTGAGCCTGTGTGCCCCGTGAGCCTGTGTGTCCCGTGAGCCA TGTGCCTCATGACTCTGTGCCCCGTGAGCCTGTGTGCCCTGTGAGTCTAT GCCCCATGAGCATGTGTGCCCCATGACTCTGCGCCCCATGACTCTGTGCC CC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG00673.hp2 others(31): Show HG00099.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG01074.hp2 HG01255.hp2 HG01496.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02735.hp2 HG02922.hp2 HG03453.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA19030.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 others(2): Show a0001c0002 a0001c0003 a0002c0001 a0002c0004 a0002c0006	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(14): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0023 a0001c0002t0025 a0001c0002t0027 a0001c0003t0001 a0002c0001t0001 a0002c0001t0006 a0002c0001t0020 a0002c0001t0021 a0002c0001t0022 a0002c0001t0026 a0002c0004t0001 a0002c0004t0016 a0002c0004t0019 a0002c0006t0028	a0001c0002t0001g0005 a0001c0002t0001g0035 a0001c0002t0001g0081 others(31): Show a0001c0002t0001g0005 a0001c0002t0001g0035 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0087 a0001c0002t0002g0058 a0001c0002t0003g0060 a0001c0002t0023g0059 a0001c0002t0025g0075 a0001c0002t0027g0113 a0001c0003t0001g0045 a0001c0003t0001g0062 a0002c0001t0001g0007 a0002c0001t0001g0020 a0002c0001t0001g0021 a0002c0001t0001g0034 a0002c0001t0001g0038 a0002c0001t0001g0039 a0002c0001t0001g0049 a0002c0001t0001g0063 a0002c0001t0001g0107 a0002c0001t0006g0092 a0002c0001t0020g0070 a0002c0001t0021g0012 a0002c0001t0022g0066 a0002c0001t0026g0099 a0002c0004t0001g0046 a0002c0004t0001g0052 a0002c0004t0001g0054 a0002c0004t0016g0011 a0002c0004t0019g0037 a0002c0006t0028g0112	34	114	0.2983	301	c.116 others(320): Show c.116-66359_116-66358insGGGGCACAGAGTCATGGGGCGCAGAG TCATGGGGCACACATGCTCATGGGGCATAGACTCACAGGGCACACAGGCT CACGGGGCACAGAGTCATGAGGCACATGGCTCACGGGACACACAGGCTCA CGGGGCACACAGGCTCACGGGGCACAGACTCACGGAGCACACAGGCTCAC GGGGCACAGATTCAGAGCACACAGGCTCATGGGGCAGAGACTCACGGGCA CACAGACTCAAGGGGCACAGAGTCATGGGGCACACAGGCTCACAGGGCAC AGAGTCACAGGGCACACAGGCTCAC	GRIK3	ENSG00000163873.10	transcript	ENST00000373091.8	protein_coding	1/15			chr1	TogoVar
GSE1_chr16_85608322_85681200	85653201	C C	CCCCTCCC others(294): Show CCCCTCCCCCTCCTCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCCACT CCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCCC TCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCT CCCCCCTCCTCCTCCCCCCCCCTCCTCCCCCCCCCCTCCTCCCCCCCCCT CCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCT CCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCCTCCTCCTCCTCCTCCCCC CT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0108 a0001c0003t0001g0108	1	290	0.0035	301	c.427 others(318): Show c.427-1075_427-1074insCTCCCCCTCCTCCCTCCTCCTCCCCCCT CCTCCTCCCCCCTCCCACTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTC CTCCCCCCCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCCTCCTCCCCC CCCCCTCCTCCCCCCCCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCT CCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCC CTCCTCCTCCTCCTCCCCCCTCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GTPBP6_chrX_299759_323796	322499	A A	AAAAAAAA others(294): Show AAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGT GGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTT GAGCCCAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCCATTAT CTACAAAAAAAAAAAAAAAAAAGAAAAAAATTAGCCGGGCGTGGTGGTGG GTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGA GCCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCT AC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0072 a0001c0003t0001g0072	1	155	0.0065	301	c.-37 others(312): Show c.-3713_-3712insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTTTCTTTT TTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGG CGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAG CTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCTTTT TTTTTTTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3704		chrX	TogoVar
GTPBP6_chrX_299759_323796	322500	A A	AAAAAAAA others(294): Show AAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGT GGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTT GAGCCCAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCCATTAT CTACAAAAAAAAAAAAAAAAAAGAAAAAAATTAGCCGGGCGTGGTGGTGG GTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGA GCCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCT AC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0085 a0001c0003t0002g0085	1	155	0.0065	301	c.-37 others(312): Show c.-3714_-3713insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTTTCTTTT TTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGG CGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAG CTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCTTTT TTTTTTTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3705		chrX	TogoVar
GUCY1A2_chr11_106669019_107023476	106815535	A A	AAAGAAAG others(294): Show AAAGAAAGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCAC TGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG TGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAG GC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	256	0.0039	301	c.120 others(320): Show c.1207-5058_1207-5057insGCCTGTAATCCCAGCACTTTGGGAGG CCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAC ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGT GGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCAGAGCTTGCAGTGAGTCGAGATCGCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAGACCTTTCTT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	4/7			chr11	TogoVar

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Search Results (Total: 10000 hits)