Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RPA3_chr7_7631518_7723607	7679096	A A	AATATATA others(404): Show AATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0286 a0001c0001t0005g0286	1	296	0.0034	411	c.-75 others(430): Show c.-758+6733_-758+6734insATCTATAAATTAAATATATAAATATA TATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAA TATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTAT CTATAAATTAAATATATAAATATGTATTTATAAACTAAATATATAAATAT GTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTAA ATATGTATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAA ATATATATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAA ATATATATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAA ATATATATTTATAAACTAAATATGTAAATATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	242609	C C	CCTTCCTC others(404): Show CCTTCCTCTATTGATTACCCTTCCTCTATTGACTACCTTCCTCTATTGAC TACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGA CTACCTTCCTCTATTGACTACCTTCCTCTATTGATTACCCTTCCTCTATT GATTACCTTCCTCTATTGATTACCCTTCCTCTATTGATTACCTTCCTCTA TTGATTACCCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTC TATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCT CTATTGACTACCTTCCTCTATTGATTACCTTCCTCTATTGACTACCTTCC TCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTC CTCTATTGACTA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	126	0.0079	411	c.613 others(428): Show c.613+4501_613+4502insTAGTCAATAGAGGAAGGTAGTCAATAGA GGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAG AGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATA GAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAATCAAT AGAGGAAGGTAGTCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCA ATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGGTAA TCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTA GTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGT AGTCAATAGAGGAAGGGTAATCAATAGAGGAAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RTN1_chr14_59590983_59875776	59750591	T T	TATATCTA others(404): Show TATATCTATAATATATATATTATATCTATAATATATAATATATCTATAAT ATATATATTATATCTATAATATATAATATACTATAATATATATATTATAT CTATAATATATAATATATCTATAATATATATATTATATCTATAATATATA ATATATCTATAATATATATATTATATCTATAATATATAATATATCTATAA TATATAATATATCTATAATATATATATTATATATATAATATATAATATAT TATATATATAATATATAATATATTATATATATAATATATAATATATTATA TCTATAATATATTATATGTAATATATATATGTTATATCTATAATATATAT TATATCTATAATATATAATATATTATATCTATAATATATAATATATTATA TCTATAAATATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	91	0.0110	411	c.242 others(428): Show c.242-4111_242-4110insTATATTTATAGATATAATATATTATATA TTATAGATATAATATATTATATATTATAGATATAATATATATTATAGATA TAACATATATATATTACATATAATATATTATAGATATAATATATTATATA TTATATATATAATATATTATATATTATATATATAATATATTATATATTAT ATATATAATATATATATTATAGATATATTATATATTATAGATATATTATA TATTATAGATATAATATATATATTATAGATATATTATATATTATAGATAT AATATATATATTATAGATATATTATATATTATAGATATAATATATATATT ATAGTATATTATATATTATAGATATAATATATATATTATAGATATATTAT ATATTATAGATATAATATATATATTATAGATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
SH3BP4_chr2_234947017_235060714	235010815	T T	TAGAACCC others(404): Show TAGAACCCTTCCTCCCTCTCCTAGGAGAGCCCTTCCTCCCTCTTCTAGGA GAACCCTTTCTCTCTCTCCTAGAACCCTTCTTCCCTCTTCTAGGAGAACC CTTCCTGTCTCTCCTAGAACCCTTCCTCCCTCTCCTGAAACCCTTCCTCC CTCTTCTAGGAGAACCCTTCCTCCCTCTCCTAGGAGAACCCTTCCTCCCT CTTCTAGAACCCTTCCTTACTCTCCTAGGAGAACCCTTCCTCCCTCTCCT AGGAGAACCCTTCCTCCCTCTCCTAGAACCCTTCTTCCCTCTCCTAGGAG AACCTTTCCTCCCTCTCCTAGAACCCTTCCTCACTCTCCTAGGAGAACCC TTCCTCCCTCTCCTAGAACCCTTCCTCACTCTCCTAGGAGAACCCTTCCT CCCTCTCCTAGG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02615.hp1 HG02647.hp2 others(2): Show HG01358.hp2 HG02615.hp1 HG02647.hp2 HG02818.hp2 HG03486.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0004 a0004c0005 a0001c0002 a0001c0004 a0004c0005	a0001c0002t0001 a0001c0004t0001 a0004c0005t0002 a0001c0002t0001 a0001c0004t0001 a0004c0005t0002	a0001c0002t0001g0041 a0001c0004t0001g0282 a0004c0005t0002g0010 others(2): Show a0001c0002t0001g0041 a0001c0004t0001g0282 a0004c0005t0002g0010 a0004c0005t0002g0281 a0004c0005t0002g0283	5	108	0.0463	411	c.-13 others(432): Show c.-133+15466_-133+15467insGCCCTTCCTCCCTCTTCTAGGAGA ACCCTTTCTCTCTCTCCTAGAACCCTTCTTCCCTCTTCTAGGAGAACCCT TCCTGTCTCTCCTAGAACCCTTCCTCCCTCTCCTGAAACCCTTCCTCCCT CTTCTAGGAGAACCCTTCCTCCCTCTCCTAGGAGAACCCTTCCTCCCTCT TCTAGAACCCTTCCTTACTCTCCTAGGAGAACCCTTCCTCCCTCTCCTAG GAGAACCCTTCCTCCCTCTCCTAGAACCCTTCTTCCCTCTCCTAGGAGAA CCTTTCCTCCCTCTCCTAGAACCCTTCCTCACTCTCCTAGGAGAACCCTT CCTCCCTCTCCTAGAACCCTTCCTCACTCTCCTAGGAGAACCCTTCCTCC CTCTCCTAGGAGAACCCTTCCTCCCTCTCCTAGGAGA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SKI_chr1_2223319_2315213	2280720	C C	CGATCTTC others(404): Show CGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTT CAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAG CGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGC CCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAG GACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGC GGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGAC ACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAG AAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACA GGCGGTGGCGGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0053 a0001c0001t0029g0053	1	286	0.0035	411	c.970 others(430): Show c.970-22243_970-22242insGACGCCCGAGAAGACAGGCGGCGGCG GCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCT TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA GCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATG CCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGA AGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGA GAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGA CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCG AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280720	C C	CGATCTTC others(404): Show CGATCTTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCGGCGATCTT CAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAG CGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGC CCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAG GACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAG AGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC GCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAG AAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACA GGCGGTGGCGGA	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0148 a0001c0001t0018g0148	1	286	0.0035	411	c.970 others(430): Show c.970-22243_970-22242insGACGCCCGAGAAGACATGCGGCGGCG GCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA GAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACG CCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGAT CTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGA GAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGA CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCG AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280743	C C	CGAGAAGA others(404): Show CGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG ACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG GCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGG AGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTT CATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGG CGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGTGGTGGC GGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGA GAGAAGACACGT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	319	0.0031	411	c.970 others(430): Show c.970-22226_970-22225insTGCGGCGGCGGCGATCTTCAGAGAGC GGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCC CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAGG ACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCG GTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACA CGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA AGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG CGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGG CGGAGATCTTCAGAGAGAAGACACGTGAGAAGACA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281044	C C	CGAGAGGA others(404): Show CGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAG ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCG GTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCG GAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGCGGCGGCGATCT TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA GCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATG CCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGA GGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGA GAGAAGACACGT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0214 a0001c0001t0003g0214	1	291	0.0034	411	c.970 others(430): Show c.970-21930_970-21929insGGACAGGCGGTGGCGGAGATCTTCAG AGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG ACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCC GAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGA CAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGG CGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGC GATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTC AGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGA GGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC6A18_chr5_1220381_1251189	1238642	A A	ACTCAGGA others(404): Show ACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAG GTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGAGG ACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAG GTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGA CTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGG TCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAG TGAGCCTGGGGC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02698.hp2 HG04204.hp2 others(2): Show HG01361.hp1 HG02698.hp2 HG04204.hp2 HG04228.hp2 NA21309.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0001c0009 a0008c0022 a0001c0002 a0001c0009 a0008c0022	a0001c0002t0002 a0001c0009t0002 a0008c0022t0004 a0001c0002t0002 a0001c0009t0002 a0008c0022t0004	a0001c0002t0002g0088 a0001c0009t0002g0053 a0001c0009t0002g0146 others(2): Show a0001c0002t0002g0088 a0001c0009t0002g0053 a0001c0009t0002g0146 a0001c0009t0002g0147 a0008c0022t0004g0236	5	292	0.0171	411	c.732 others(426): Show c.732+593_732+594insCATCAGGTTTGGAGTGAGCCTGGGGCCTCA GGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAG GTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGGG CCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCA GGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAG GTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGC CTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAG GAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAG GTTTGGAGTGAGCCTGGGGCCTCAGGAAAGA	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SMIM36_chr17_55444856_55516452	55500977	A A	ACATTATA others(404): Show ACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAAT ATACATTATATTTTATGATATATAATATACATTATATTTTATGATATATA ATATACATTATATTTTATGATATATAATATACATTATATTTTATGATATA TAATATACATTATATTTTATGATATATAATATACATTATATTTTATGATA TATAATATACATTATATTTTATGATATATAATATACATTATATTTTATGA TATATAATATACATTATATTTTATGATATATAATATACATTATATTTTAT GATATATAATATACATTATATTTTATGATATATAATATACATTATATTTT ATGATATATAATATACATTATATTTTATGATATATAATATACATTATATT TTATGATATATT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp1 HG02615.hp2 HG02145.hp1 HG02486.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0224 a0001c0001t0010g0225 a0001c0001t0010g0228 a0001c0001t0010g0224 a0001c0001t0010g0225 a0001c0001t0010g0228	3	218	0.0138	411	c.17 others(430): Show c.174+9901_*174+9902insAATATATCATAAAATATAATGTATAT TATATATCATAAAATATAATGTATATTATATATCATAAAATATAATGTAT ATTATATATCATAAAATATAATGTATATTATATATCATAAAATATAATGT ATATTATATATCATAAAATATAATGTATATTATATATCATAAAATATAAT GTATATTATATATCATAAAATATAATGTATATTATATATCATAAAATATA ATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAATA TAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAA TATAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAA AATATAATGTATATTATATATCATAAAATATAATG	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(404): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGTGGGAGGG GGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGG GGAAGCGGGAACGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGGAGGGG GAGGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAG GGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGG GAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGG GGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAG GGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0042 a0001c0001t0014g0042	1	12	0.0833	411	c.34 others(420): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCT TCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCG CTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTC CCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTT CCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SUCLG2_chr3_67369719_67659612	67444510	T T	TGGGGGGG others(404): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGGGTGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC ACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCCGCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	221	0.0045	411	c.106 others(432): Show c.1063-43660_1063-43659insCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGCGGGCTGACC CCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUCLG2_chr3_67369719_67659612	67444519	C C	CGGCCCCC others(404): Show CGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGG TGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAG CCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCGCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGGTCA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0249 a0001c0001t0010g0249	1	278	0.0036	411	c.106 others(432): Show c.1063-43669_1063-43668insTGACCCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGG GCGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCC	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUCLG2_chr3_67369719_67659612	67444520	A A	GGCCCCCC others(404): Show GGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGG TGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAG CCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCGCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGGGTCA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02738.hp1 HG02071.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0003 a0001c0018t0002 a0001c0001t0003 a0001c0018t0002	a0001c0001t0003g0038 a0001c0018t0002g0061 a0001c0001t0003g0038 a0001c0018t0002g0061	2	273	0.0073	411	c.106 others(432): Show c.1063-43669_1063-43668insGACCCCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGG CGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCC	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(404): Show GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02280.hp2 HG02976.hp2 others(3): Show HG01891.hp2 HG02280.hp2 HG02976.hp2 HG03516.hp2 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0213 a0001c0001t0005g0020 a0001c0001t0005g0021 others(3): Show a0001c0001t0001g0213 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0074 a0001c0001t0005g0075 a0001c0001t0005g0079	6	14	0.4286	411	c.75 others(422): Show c.7501_*7502insATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(404): Show GATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTATA TATATTATATATGATTATAAAATATAATTATATATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0235 a0001c0001t0006g0235	1	9	0.1111	411	c.75 others(422): Show c.7501_*7502insATTATAAAATATAATTATATATTATATATGATTA TAAAATATAATTATATATATTATATATGATTATAAAATATAATTATATAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUFU_chr10_102498972_102638535	102638057	A A	AAAAATAT others(404): Show AAAAATATATATAATATATTATATATGATCATAATATATAATATATTATA TATGATCATATAAAATATATAATATATTATATATGATCATATAAAATATA TAATATATTATATATGATCATATAAAATATATAATATATTATATATGATC ATATAAATAATAATATATTAATATGATCATATAAATATATAATATATTAT ATATGATCATATAAAATATATAATATATTATACATGATCATATAAAATAT ATAATATACATGATCATATAAAATATATAATATAATATACATGATCATAT AAAATATATAATATACATGATCATATAAAATATATATTATACATGATCAT ATAAAAATATATATATTATATATGATCATATATAATATATAATATATTAT ATATGATCATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0113 a0001c0001t0004g0113	1	149	0.0067	411	c.79 others(422): Show c.7902_*7903insAAAATATATATAATATATTATATATGATCATAAT ATATAATATATTATATATGATCATATAAAATATATAATATATTATATATG ATCATATAAAATATATAATATATTATATATGATCATATAAAATATATAAT ATATTATATATGATCATATAAATAATAATATATTAATATGATCATATAAA TATATAATATATTATATATGATCATATAAAATATATAATATATTATACAT GATCATATAAAATATATAATATACATGATCATATAAAATATATAATATAA TATACATGATCATATAAAATATATAATATACATGATCATATAAAATATAT ATTATACATGATCATATAAAAATATATATATTATATATGATCATATATAA TATATAATATATTATATATGATCATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4523		chr10	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(404): Show GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGGGGGAGGG GGGAGAGAGGGGGAGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAGGGG GGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAG GGGGAGAGAGAGGGGGAGGGAGGGGGAGAGAGAGGGGGAGGGAGGGAGGG GGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGA GAGAGAGGGGGAGGGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAG GGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG GAGAGAGAGGGGGAGGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGAGGGA GAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0227 a0001c0001t0009g0227	1	108	0.0093	411	c.-18 others(430): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCC CTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCC CCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCC CCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTCTCCCCCCTCTCTCCCCC CTCCCTCCCCCTCTCTCCCCCCTCCCCCTCTCTCCCCCCTCCCCCTCTCT CCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TCF3_chr19_1604292_1657615	1628838	C C	CGGGGTGA others(404): Show CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGATGAGGCGGGAA GGGGACAGCAGAACTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACT CACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGA GCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTG GGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGA GCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGA GGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACA GCAGAGCTCACG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0024 a0001c0005t0024	a0001c0005t0024g0032 a0001c0005t0024g0032	1	156	0.0064	411	c.299 others(428): Show c.299-1413_299-1412insCGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCT CTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCC CGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAG CTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCC CGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGT GAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCT TCCCGCCTCACCCCCTGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCC GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628871	C C	CGGGGTGA others(404): Show CGGGGTGAGGTGGGAAGGGGACACCAGAGCTCACAGGGGGTGATGCGGGA AGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAAGGGACAGCAGAAC TCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGTGGGGCGG GAAGGGGACAGCAGAGCTCATGGGGATGGGGCGGGAAGGGGACAGCAGAG CTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTG GGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTG AGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAG CAGAGCTCACAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0098 a0001c0003t0008g0098	1	207	0.0048	411	c.299 others(428): Show c.299-1446_299-1445insCTGTGAGCTCTGCTGTCCCCTTCCCACC TCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTC TGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCC GCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAG CTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTC CCGCCCCATCCCCATGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCTGTG AGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCTTT CCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCATCACCCCCT GTGAGCTCTGGTGTCCCCTTCCCACCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TECPR1_chr7_98209624_98257232	98243105	C C	CCCACCCA others(404): Show CCCACCCATCCACCCATCCATCCACACACCCACCTATCCATCCTTCTGCC CACACACCCACCCATCCACCCATCCATCCACACACCCACCTATCCATCCT TCTGCCCACACACCACCCATCCACCCATCCATCCACACACCCACCTATCC ATCCTTCTGCCCACACACCACCCATCCACCCATCCATCCACACACCCACC CACCCATCCATCCACACATCCACCCACACCCATCCATCCATCCACCCACC CATCCACCCATCCATCCACACACCCACCTATCCATCCTTCTGCCCACACA CCCACCCATCCACCCATCCATCCACACACCCACCTATCCATCCATCTGCC CACACACCCACCCATCCACCCATCCATCCACACACCCACCTATCCATCCT TCTGCCCACACA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19066.hp2 NA19080.hp2 NA19007.hp2 NA19066.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0007 a0001c0001t0009g0054 a0001c0001t0009g0078 a0001c0001t0009g0007 a0001c0001t0009g0054 a0001c0001t0009g0078	3	296	0.0101	411	c.657 others(426): Show c.657+361_657+362insTGTGTGGGCAGAAGGATGGATAGGTGGGTG TGTGGATGGATGGGTGGATGGGTGGGTGTGTGGGCAGATGGATGGATAGG TGGGTGTGTGGATGGATGGGTGGATGGGTGGGTGTGTGGGCAGAAGGATG GATAGGTGGGTGTGTGGATGGATGGGTGGATGGGTGGGTGGATGGATGGA TGGGTGTGGGTGGATGTGTGGATGGATGGGTGGGTGGGTGTGTGGATGGA TGGGTGGATGGGTGGTGTGTGGGCAGAAGGATGGATAGGTGGGTGTGTGG ATGGATGGGTGGATGGGTGGTGTGTGGGCAGAAGGATGGATAGGTGGGTG TGTGGATGGATGGGTGGATGGGTGGGTGTGTGGGCAGAAGGATGGATAGG TGGGTGTGTGGATGGATGGGTGGATGGGTGG	TECPR1	ENSG00000205356.10	transcript	ENST00000447648.7	protein_coding	6/25			chr7	TogoVar
TERT_chr5_1248167_1300068	1272573	C C	CCACACAT others(404): Show CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATC CACAGTCACCACACATCAGACCCCTGTGACCGACTGCCATCCACAGTCAC CACACATCAGACCCTACGACCGCCATCCACAGTCACCACACATCAGACCC CACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATC AGACCCCTGTGACCGATCACCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCACCAT CCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01081.hp2 HG01515.hp1 HG00323.hp2 HG01081.hp2 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0161 a0001c0001t0001g0177 a0001c0001t0002g0205 a0001c0001t0001g0161 a0001c0001t0001g0177 a0001c0001t0002g0205	3	201	0.0149	411	c.228 others(428): Show c.2287-294_2287-293insTGGTGACTGTGGATGGTGATCGGTCACA GGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGT GGTGACTGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTAGGGTCTGATGTGTGGTGACTGTGGATGGCA GTCGGTCACAGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGG TCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273262	A A	ACATCAGA others(404): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCCG GGACCAACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCC ACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAG ACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCAT CCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACA TCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGAC CGCCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAGTCACATC AGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCC ATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0355 a0001c0001t0001g0355	1	365	0.0027	411	c.228 others(428): Show c.2287-983_2287-982insGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGACTGTGGATG GCGGTCGTGGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTTGGTCCCGGGGGTCTGATGTGT GGTGACTGTGGATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THBS2_chr6_169210785_169258846	169242691	T T	TCTTCCCA others(404): Show TCTTCCCACCTTCCCACCACTCCCGCCTTCCCACCTTCCCACCTTCCCAC CGCTCCCACCTTCCCACCTTCCCATCTTCCCATCTTCCCACCACTCCCAC CTTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCTTCCCATC TTCCCATCTTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCA CTCCCACCTTCCCACCTTCCCACCTTCCCATCTTCCCACCTTCCCACCAC TCCCGCCTTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTT CCCATCTTCCCATCTTCCCACCACTCCCACCTTCCCACCTTCCCACCACT CCCACCTTCCCACCTTCCCACCTTCCCATCTTCCCATCTTCCCACCTTCC CACCACTCCCAC	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	353	0.0028	411	c.695 others(426): Show c.695-734_695-733insGTGGGAGTGGTGGGAAGGTGGGAAGATGGG AAGATGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGA AGGTGGGAGTGGTGGGAAGATGGGAAGATGGGAAGGTGGGAAGGTGGGAG CGGTGGGAAGGTGGGAAGGTGGGAAGGCGGGAGTGGTGGGAAGGTGGGAA GATGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAG GTGGGAGTGGTGGGAAGGTGGGAAGATGGGAAGATGGGAAGGTGGGAAGG TGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGA TGGGAAGATGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGT GGGAAGGCGGGAGTGGTGGGAAGGTGGGAAG	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
TH_chr11_2158929_2176815	2161948	C C	CACCCCTG others(404): Show CACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTA TCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGG ACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTG TCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGG ACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGT CCCCACACCCCTGTCCCCAGACCCCTGTCCCCCACACCCCTGTCCCCCGG ACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGT CCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCAGGA CCCTGTCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	12	0.0833	411	c.22 others(422): Show c.2284_*2285insCCGGGGACAGGGTCCTGGGGACAGGGGTGTGGGG ACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGT CTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGGG ACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGT CTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTC CTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		1980		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930908	C C	CAGGGGTT others(404): Show CAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGG GTTAGGGAGGCCGGGGTTATGGAGGCAGGGATTATGGAGGCAGGGATTAG GGAGGCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGG CTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGG GGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGT TAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTATGG AGGCAGGGATTATGGAGGCAGGGATTAGGGAGGCAGGGATTAGGGAGGCC GGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGG GTTAGGGAGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	293	0.0034	411	c.46 others(422): Show c.4682_*4683insAGCCTCCCTAACCCCTGGCCTCCCTAACCCCTGG CCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGCCTCC CTAATCCCTGCCTCCATAATCCCTGCCTCCATAACCCCGGCCTCCCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTG GCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCCTCCCTAACCCCTGGCC TCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCT AACCCCGGCCTCCCTAATCCCTGCCTCCCTAATCCCTGCCTCCATAATCC CTGCCTCCATAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCC TCCCTAACCCCAGCCTCCCTAACCCCT	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4461		chr11	TogoVar
TP73_chr1_3647516_3741201	3706425	G G	GGGGGTAA others(404): Show GGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGAGGGG GGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCTGGGGAGAGGGGTAA TAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGAGGGGGGTAATAG GGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTAATAGGGACA ATCACGGTGCCCGCCGCAGGCCTGGGGAGAGGGGTAATAGGGACAATCAC GGTGCCCGCCGCAGGCCCGGGGAGAGGGGGGTAATAGGGACAATCACGGT GCCCGCCGCAGGCCCGGGGAGGGGGGTAATAGGGACAATCACGGTGCCCG CCGCAGGCCCGGGGAGGGGGGTAATAGGGACAATCACGGTGCCCGCCGCA GGCCCGGGGAGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02965.hp2 HG02922.hp1 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0198 a0001c0002t0001g0089 a0001c0002t0001g0198	2	257	0.0078	411	c.187 others(428): Show c.187-1075_187-1074insGGTAATAGGGACAATCACGGTGCCCGCC GCAGGCCTGGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGG CCCGGGGAGAGGGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCC GGGGAGGGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCTGGGGA GAGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGAGGG GGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTA ATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTAATAGG GACAATCACGGTGCCCGCCGCAGGCCCGGGGAGAGGGGTAATAGGGACAA TCACGGTGCCCGCCGCAGGCCCGGGGAGAGGGG	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM2_chr4_153199443_153344317	153222058	A A	AAGGAAGG others(404): Show AAGGAAGGAGAGAGGGAGCGAGGGAGGAAGGAAGGAAGGAAGGAGGAAGG AAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGGA AGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGA GGAAGGAAGGAAAGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAG GAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAAGGAAGGAGGGAGG GAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGGAAGGAGGGAGGGAGGAAG GAAGGAAGGAGGAAGGAAGGAAGGAGGAAGGAAGGAAGGAGGAAGGAAGG AGGGAGGGAGCGAGAGAGGAAGGAAGGGAGGGAGAAAAGAAGAGCGAGGG AGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0217 a0001c0001t0030g0217	1	87	0.0115	411	c.30+ others(428): Show c.30+17506_30+17507insGAGAGGGAGCGAGGGAGGAAGGAAGGAA GGAAGGAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGG GAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAAGG AGGGAGGGAGGGAGGAAGGAAGGAAAGAGGAAGGAAGGAGGGAGGGAGGG AGGGAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAA GGAAGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGGAAGGA GGGAGGGAGGAAGGAAGGAAGGAGGAAGGAAGGAAGGAGGAAGGAAGGAA GGAGGAAGGAAGGAGGGAGGGAGCGAGAGAGGAAGGAAGGGAGGGAGAAA AGAAGAGCGAGGGAGGGAGGGAGGGAGGAAGGA	TRIM2	ENSG00000109654.16	transcript	ENST00000338700.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
TWIST2_chr2_238843085_238915534	238870633	C C	CCACACAC others(404): Show CCACACACACCACACCCCACACACACCACACCCCACACACACCACACCCC ATACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACACCCCATACACACCACACACCCCCCACACACCACACCCC ACACACACCACACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACACCCCATACACACCACACACC CCCCACACACCACACCCCATACACACCACACACCCCACACACACCACACC CCACACACACCACACCCCACACACCACACCCCACACACACCACACACCCC ACACACACCACACCCCACACACACCACACACCCCCCACACACCACACCCC ATACACACCACA	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA19004.hp1 HG00621.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0284 a0001c0001t0001g0046 a0001c0001t0001g0284	2	92	0.0217	411	c.35 others(430): Show c.35+21901_*35+21902insACACACACCACACCCCACACACACCA CACCCCACACACACCACACCCCATACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACACCCCATACACACCACA CACCCCCCACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACA CACCCCATACACACCACACACCCCCCACACACCACACCCCATACACACCA CACACCCCACACACACCACACCCCACACACACCACACCCCACACACCACA CCCCACACACACCACACACCCCACACACACCACACCCCACACACACCACA CACCCCCCACACACCACACCCCATACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UMAD1_chr7_7635752_7884223	7679096	A A	AATATATA others(404): Show AATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0152 a0001c0001t0042g0152	1	241	0.0041	411	c.82+ others(426): Show c.82+5644_82+5645insTATATATTTACATATTTAGTTTATAAATAT ATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATAT ATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATAT ATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATAC ATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAA ATACATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTT ATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA AATATATATTTATATATTTAATTTATAGATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UNC5D_chr8_35230475_35801540	35248360	A A	AGATATAT others(404): Show AGATATATAATATATAAATATATGTTATATAAGATATATAATATATAAAT ATATGTTATATAAGATATATAATATATAAATATATGTTATATAAGATATA TAATATATAAATATATGTTATATAAGATATATAATATATAAATATATGTT ATATAAGATATATAATATATAAATATATGTTATATAAGATATATAATATA TAAATATATGTTATATAAGATATATAATATATAAATATATGTTATATAAG ATATATAATATATAAATATATGTTATATAAGATATATAATATATAAATAT ATGTTATATAAGATATATAATATATAAATATATGTTATATAAGAAATAGA TATAATATATAAATATATGTTATATAAGAAATAGATATAATATATAAATA TATGTTATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG03927.hp1 HG02129.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0051 a0001c0001t0001g0042 a0001c0001t0001g0051	2	18	0.1111	411	c.103 others(430): Show c.103+12475_103+12476insTATATAATATATAAATATATGTTATA TAAGATATATAATATATAAATATATGTTATATAAGATATATAATATATAA ATATATGTTATATAAGATATATAATATATAAATATATGTTATATAAGATA TATAATATATAAATATATGTTATATAAGATATATAATATATAAATATATG TTATATAAGATATATAATATATAAATATATGTTATATAAGATATATAATA TATAAATATATGTTATATAAGATATATAATATATAAATATATGTTATATA AGATATATAATATATAAATATATGTTATATAAGATATATAATATATAAAT ATATGTTATATAAGAAATAGATATAATATATAAATATATGTTATATAAGA AATAGATATAATATATAAATATATGTTATATATGA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
VCX3B_chrX_8459830_8471510	8466895	A A	AGAGGTGG others(404): Show AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGAGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGGAGGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0006 a0005c0004t0006	a0005c0004t0006g0004 a0005c0004t0006g0004	1	195	0.0051	411	c.51 others(420): Show c.512_*513insGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGT GGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGGAGGAAGAG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		386		chrX	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TATATAAT others(404): Show TATATAATATATATATTATATATATAATATATATATTATATATATATTAT ATATATATTATATATATATAATATATATATATTATATATATATAATATAT ATATTATATATATATATAATATATATATTATATATATATATAATATATAT ATATTATATATATATATAATATATATATTATATATATATATAATATATAT ATATTATATATATATATAATATATATATATTATATATATATAATATATAT ATTATATATATATAATATATATATTATATATATATTATATATATATTATA TAATATAATATTATTATATATTATATAATATATATATAATATATAATAAT ATATAATATATATAATATATATATTATATATATATATTATATATATATAT ATATATAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0112 a0004c0011t0001g0112	1	49	0.0204	411	c.37 others(422): Show c.3793_*3794insCTCTCTATATATATATATATATATAATATATATA TATAATATATATATTATATATATTATATATTATTATATATTATATATATA TTATATAATATATAATAATATTATATTATATAATATATATATAATATATA TATAATATATATATTATATATATATAATATATATATTATATATATATAAT ATATATATATTATATATATATATAATATATATATATTATATATATATATA ATATATATATTATATATATATATAATATATATATATTATATATATATATA ATATATATATTATATATATATATAATATATATATTATATATATATAATAT ATATATATTATATATATATAATATATATATAATATATATATAATATATAT ATTATATATATAATATATATATTATAT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GATATATA others(404): Show GATATATATGGTATACATGATATATATCATATATATCATATGTGATATAT ATGATACATATGACATATATCATATGTGATACATATGACATATATCATAT GTGATACATATGACATATATCATATGTGATACATATGACATATATCATAT GTGATACATATGACATATATCATATGTGATATATGTCACATATATCATAT GTGATATATGTCACATATATCATATGTGATATATGTCACATATATCACAT GTGATATATATCATATATATCATATATATGATATATATCATATATCATAT ATATGATATATATCATATATCATATATATGATATATATCACATATATATA TCATATATATCACATATATATCATATATATCATATATATATCATATATAT GATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0027	1	253	0.0040	411	c.-35 others(422): Show c.-3503_-3502insATATATATGGTATACATGATATATATCATATATA TCATATGTGATATATATGATACATATGACATATATCATATGTGATACATA TGACATATATCATATGTGATACATATGACATATATCATATGTGATACATA TGACATATATCATATGTGATACATATGACATATATCATATGTGATATATG TCACATATATCATATGTGATATATGTCACATATATCATATGTGATATATG TCACATATATCACATGTGATATATATCATATATATCATATATATGATATA TATCATATATCATATATATGATATATATCATATATCATATATATGATATA TATCACATATATATATCATATATATCACATATATATCATATATATCATAT ATATATCATATATATGATATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GATATATA others(404): Show GATATATATGGTATATATGATACATATCATATATATCATATGTGATATAT ATGATACATATGACATATATCATATGTGATACATATGACATATATCATAT GTGATACATATGACATATATCATATGTGATACATATGACATATATCATAT GTGATACATATGACATATATCATATGTGATACATATGACATATATCATAT GTGATACATATGACATATATCATATGTGATATATGTCACATATATCACAT ATGATATATATCATATATATCATATATATGATATATATCATATATATCAT ATATATGATATATATCATATATATCATATATATGATATATATCATATATC ATATATATGATATATATCACATATATATATCATATATATCACATATATAT CATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0004 a0005c0004t0004	a0005c0004t0004g0094 a0005c0004t0004g0094	1	253	0.0040	411	c.-35 others(422): Show c.-3503_-3502insATATATATGGTATATATGATACATATCATATATA TCATATGTGATATATATGATACATATGACATATATCATATGTGATACATA TGACATATATCATATGTGATACATATGACATATATCATATGTGATACATA TGACATATATCATATGTGATACATATGACATATATCATATGTGATACATA TGACATATATCATATGTGATACATATGACATATATCATATGTGATATATG TCACATATATCACATATGATATATATCATATATATCATATATATGATATA TATCATATATATCATATATATGATATATATCATATATATCATATATATGA TATATATCATATATCATATATATGATATATATCACATATATATATCATAT ATATCACATATATATCATATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar
ABCB11_chr2_168915781_169036324	168975476	T T	TATAAATA others(405): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATT TATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATA TTTATAGATAAATATATCAATATTTTTATATTTATAGATAAATATATCAA TATATAAATATTTTTATATTTATAGATAAATATATCAATATATAAATATT TTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTATA GATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTT TATATTTATAAATATATAAATATTTTTATATTTATAAATATATAAATATT TTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02451.hp2 HG03453.hp1 HG01496.hp2 HG02451.hp2 HG03453.hp1	a0003 a0003	a0003c0014 a0003c0051 a0003c0014 a0003c0051	a0003c0014t0005 a0003c0051t0001 a0003c0014t0005 a0003c0051t0001	a0003c0014t0005g0196 a0003c0014t0005g0198 a0003c0051t0001g0077 a0003c0014t0005g0196 a0003c0014t0005g0198 a0003c0051t0001g0077	3	230	0.0130	412	c.130 others(431): Show c.1308+1100_1308+1101insCTATAAATATAAAAATATTTATATAT TTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TGATATATTTATCTATAAATATAAAAATATTTATATATTGATATATTTAT CTATAAATATAAAAATATTGATATATTTATCTATAAATATAAAAATATTT ATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATAT TTATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975476	T T	TATAAATA others(405): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATT TATAAATATATAAATATTTTTATATTTATAAATATATCAATATTTTTATA TTTATAGATAAATATATCAATATTTTTATATTTATAGATAAATATATCAA TATATAAATATTTTTATATTTATAGATAAATATATCAATATATAAATATT TTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTATA GATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTT TATATTTATAAATATATAAATATTTTTATATTTATAAATATATAAATATT TTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0004 a0003c0017t0004	a0003c0017t0004g0010 a0003c0017t0004g0010	1	228	0.0044	412	c.130 others(431): Show c.1308+1100_1308+1101insCTATAAATATAAAAATATTTATATAT TTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TGATATATTTATCTATAAATATAAAAATATTTATATATTGATATATTTAT CTATAAATATAAAAATATTGATATATTTATCTATAAATATAAAAATATTG ATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATAT TTATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABHD12B_chr14_50867053_50909970	50870945	A A	AAGAAAGA others(405): Show AAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAA GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGA AAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGA AAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAAA GAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0203 a0002c0002t0002g0203	1	362	0.0028	412	c.-12 others(423): Show c.-1230_-1229insAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAG AGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAG AAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAG AGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAA AGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAG AAAGAAAGAAAGAAAGAAAGAAAGAAAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1107		chr14	TogoVar
ABR_chr17_998519_1184981	1163995	G G	GCCCCAGA others(405): Show GCCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCATCC AGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCAGG GGCCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGGATC TAGGTAGGACGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGAC GCAGGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGA GCATCTAGGTAGGACGGACCCTGGCAAAGTGTCACACACAGCACTGAATC CAGACGCAGGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATG TCGGAGCATCCAGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAAT CCAGACGCAGGGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0091 a0001c0002t0091	a0001c0002t0091g0337 a0001c0002t0091g0337	1	326	0.0031	412	c.61+ others(429): Show c.61+15671_61+15672insTCCCTGCGTCTGGATTCAGTGCTGTGTG TGACACTTTGCCAGGGTCCCACCTGGATGCTCCGACATCCATGTTCACTG GGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCTGTGT GTGACACTTTGCCAGGGTCCGTCCTACCTAGATGCTCCGACATCCATGTT CACTGGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGC TGTGTGTGACACTTTGCCAGGGTCCGTCCTACCTAGATCCTCCGACATCC ATGTTCACTGGGCGTCTTGCAGTTTATCTGGGGCCCCTGCGTCTGGATTC AGTGCTGTGTGTGACACTTTGCCAGGGTCCCACCTGGATGCTCCGACATC CATGTTCACTGGGCGTCTTGCAGTTTATCTGGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288681	T T	TCCCCCGT others(405): Show TCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	259	0.0039	412	c.48 others(423): Show c.4882_*4883insGGACGGGGCAGAGACACGGGACGGAGCAGAGACT CGGGGGACGGAGCAGGGACACGGGACGGAGCAGGGACACGGGACGGAGCA GAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGAC GGAGCAGAGACTCGGGGGACGGAGCAGGGACACGGGACGGAGCAGGGACA CGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGGGACGGAGCA GGGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGG GGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGGGCAGA GACACGGGACGGGGCAGAGACACGGGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3709		chr1	TogoVar
ACOT11_chr1_54543228_54615329	54561917	C C	CCCCCCCC others(405): Show CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCTCTCACCTCCCGGA CGGGGCAGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGTGAGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCAG GGGGGCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0347 a0001c0005t0002g0347	1	282	0.0035	412	c.33+ others(429): Show c.33+13582_33+13583insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC TCTCACCTCCCGGACGGGGCAGCTGGCTGGGCGGGGGGGCTGACCCCCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCTGGGCAGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54561945	G G	GGCTGGCC others(405): Show GGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCTCTCACCTCCCGGACGGGGCAGCTGGCTGGGCGGGGGGGCTGA CCCCCCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02647.hp1 HG02280.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0032 a0002c0002t0003g0176 a0002c0002t0003g0032 a0002c0002t0003g0176	2	343	0.0058	412	c.33+ others(429): Show c.33+13614_33+13615insGGGGGGCTGACACCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCTCTCACCTCCCGGACGGGGCAGCTGGCTGGGCG GGGGGGCTGACCCCCCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGTGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTL8_chr1_17750333_17832063	17754332	G G	GTTTTTTT others(405): Show GTTTTTTTTTTTTTTTTTTTTTTTTCCTCTCACATATTCTTCTTTGTTTT ATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTTTTTTTTTTTTTTT TATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTA CATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTGTCAT CTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCC CACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCT CATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTC GTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTC CCTATGTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0321 a0002c0002t0003g0321	1	345	0.0029	412	c.-11 others(423): Show c.-1197_-1196insTTTTTTTTTTTTTTTTTTTTTTTTCCTCTCACAT ATTCTTCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTT TTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACAT TGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCACTGCAC CCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCC CCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCT GTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGC GGTGTTTGGTTTTTCGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCC AATTTCATCCATGTCCCTATGTTTTTTT	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding		1000		chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3026038	G G	GTGGTGGT others(405): Show GTGGTGGTGGTGATGATGATGGTGATGATGGTGATGGTGATGATGGTGAT GGTGGTGATGATGGTGGTGATGATGGTGGTGGTGGTGATGATGATGGTGA TGATGGTGATGGTGATGATGATGGTGATGATGGTAATGACAATGATGGTG ATGATGATAGTAATGACATGGTGGTGGTGATCATGATGATGGTGAGGATG GTGATGGTGATGATGGTGCTGGTGACGATAATGATGGTGGTGATGGTGAT GGTGGTGGTGATGATGGTGATGATGACAATGATGGTGATCATGATGGTGA TGATGATGGTGATGGCGATGGTGATGATGGTGGTAATAACATAGTGGTGA TGATCATGATGATGGGGAAGATGGTGGTGGTGATGGTGACAGTGATGATG ATGATGATGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	358	0.0056	412	c.32 others(423): Show c.3218_*3219insTGGTGGTGGTGATGATGATGGTGATGATGGTGAT GGTGATGATGGTGATGGTGGTGATGATGGTGGTGATGATGGTGGTGGTGG TGATGATGATGGTGATGATGGTGATGGTGATGATGATGGTGATGATGGTA ATGACAATGATGGTGATGATGATAGTAATGACATGGTGGTGGTGATCATG ATGATGGTGAGGATGGTGATGGTGATGATGGTGCTGGTGACGATAATGAT GGTGGTGATGGTGATGGTGGTGGTGATGATGGTGATGATGACAATGATGG TGATCATGATGGTGATGATGATGGTGATGGCGATGGTGATGATGGTGGTA ATAACATAGTGGTGATGATCATGATGATGGGGAAGATGGTGGTGGTGATG GTGACAGTGATGATGATGATGATGGTGA	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		3136		chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3026038	G G	GTGGTGGT others(405): Show GTGGTGGTGGTGATGATGATGGTGATGATGGTGATGGTGATGATGGTGAT GGTGGTGATGATGGTGGTGATGATGGTGGTGGTGGTGATGATGGTGATGA TGGTGATGGTGATGATGATGGTGATGATGGTAATGACAATGATGGTGATG ATGATAGTAATGACATGGTGGTGGTGATCATGATGATGGTGAGGATGGTG ATGGTGATGATGGTGCTGGTGACGATAATGATGGTGGTGATGATGGTGAT GGTGGTGGTGATGATGGTGATGATGACAATGATGGTGATCATGATGGTGA TGATGATGGTGATGGCGATGGTGATGATGGTGGTAATAACATAGTGGTGA TGATCATGATGATGGGGAAGATGGTGGTGGTGATGGTGACAGTGATGATG ATGATGATGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp2 NA18980.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0000 a0001c0001t0006g0000 a0001c0001t0001g0000 a0001c0001t0006g0000	2	358	0.0056	412	c.32 others(423): Show c.3218_*3219insTGGTGGTGGTGATGATGATGGTGATGATGGTGAT GGTGATGATGGTGATGGTGGTGATGATGGTGGTGATGATGGTGGTGGTGG TGATGATGGTGATGATGGTGATGGTGATGATGATGGTGATGATGGTAATG ACAATGATGGTGATGATGATAGTAATGACATGGTGGTGGTGATCATGATG ATGGTGAGGATGGTGATGGTGATGATGGTGCTGGTGACGATAATGATGGT GGTGATGATGGTGATGGTGGTGGTGATGATGGTGATGATGACAATGATGG TGATCATGATGGTGATGATGATGGTGATGGCGATGGTGATGATGGTGGTA ATAACATAGTGGTGATGATCATGATGATGGGGAAGATGGTGGTGGTGATG GTGACAGTGATGATGATGATGATGGTGA	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		3136		chr1	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(405): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAG GGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAG AGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAG GGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGG GAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGA GGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGG GGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00738.hp2 HG01069.hp2 others(20): Show HG00280.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01255.hp2 HG01361.hp2 HG01516.hp1 HG02129.hp1 HG02683.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG04228.hp1 HG06807.hp1 NA18940.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0001c0008 others(2): Show a0001c0001 a0001c0002 a0001c0008 a0002c0007 a0008c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0027 a0001c0002t0001 a0001c0008t0001 a0002c0007t0001 a0008c0010t0019	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0015 others(14): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0036 a0001c0001t0001g0048 a0001c0001t0001g0088 a0001c0001t0001g0108 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0136 a0001c0001t0004g0006 a0001c0001t0006g0041 a0001c0001t0027g0094 a0001c0002t0001g0005 a0001c0008t0001g0068 a0002c0007t0001g0032 a0008c0010t0019g0187	23	52	0.4423	412	c.51 others(423): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCT CCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCC CTCCCCTCCTCCCTCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCTCCCCT CCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTC CTCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADGRG2_chrX_18984307_19127468	19074546	T T	TCTTCTTC others(405): Show TCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTTCTTCTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	183	0.0055	412	c.-1- others(427): Show c.-1-5712_-1-5711insGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGG AAGAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGAAGAAGAAGAAG	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ANKLE2_chr12_132720503_132766832	132729596	A A	AAGGGGAG others(405): Show AAGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAGGGGGAGG TGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGGAGGGGGA GGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGGGGGAGGA GAGGGGAGTGGATGGGTGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAGT CGACGAGTGGGAGGGGAGGGGAAGGTGAGGGGAGGGGGAGGTGAGGGGAG GGGGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGGAGGAT GGGAGGGGAGGGGGAGGGGAGGGGAAGGTGAGAGAAGGGGGAGGGGAAGG CGAGGGGAAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGGGGAGGG GGAGGGGGAGGCG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	226	0.0044	412	c.248 others(427): Show c.2483+82_2483+83insCGCCTCCCCCTCCCCCTCCCCCTCCCCTCG CCTTCCCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTC TCTCACCTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTC CCCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCACCTCCCCC TCCCCTCACCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCCCC CTTCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCCCCCTCCCCTC ACCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCA CCCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCTCCC ACCCTTCCACTCCCCTCACCTCCTCCTCCCCT	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729618	A A	AGTGGAAG others(405): Show AGTGGAAGGGTGGGAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGTGAGGG GAGTGGACGGGTGGGAGGGGGAGGGGGAGGGGAGGGTGGGAGGGGGAGGG GAGGGGAAGGTGAGGGGAGGGGGAGGAGAGGGGAGTGGATGGGTGGGAGG GGAGGGGAAGGGGGAGGGGAGGGGAGTCGACGAGTGGGAGGGGAGGGGAA GGTGAGGGGAGGGGGAGGTGAGGGGAGGGGGGGTGGGAGGGGAGGGGGAG GGTGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGGG GAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGGGG GAGGGGAAGGCGAGGGGAGGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGG GAGGTGAGGGGAG	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	347	0.0029	412	c.248 others(427): Show c.2483+60_2483+61insCTCCCCTCACCTCCCCCTCCCCTCGCCTCC CCCTCCCCCTCCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTTC CCCTCGCCTTCCCCTCCCCCTTCTCTCACCTTCCCCTCCCCTCCCCCTCC CCTCCCATCCTCCCCTCCCCCTCCCCTCCCACCCTCCCCCTCCCCTCCCA CCCCCCCTCCCCTCACCTCCCCCTCCCCTCACCTTCCCCTCCCCTCCCAC TCGTCGACTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCACCCATCCACT CCCCTCTCCTCCCCCTCCCCTCACCTTCCCCTCCCCTCCCCCTCCCACCC TCCCCTCCCCCTCCCCCTCCCACCCGTCCACTCCCCTCACCTCCCCCTCC CCTCACCTCCCCCTCCCCTCCCACCCTTCCAC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANO9_chr11_412938_447011	428857	A A	AGGGACAC others(405): Show AGGGACACTCACCCCACACATGGGGAGACAGACACGGGACACGCACCCCA CACGTGGGGAGACAGACACAGGGACACGCCTCACGGGTGGACAGACACGG GACACTCACACCACACGTGGGGAGACAGACACAGGGACACGCCTCACGGG TGGACAGACACGGGACACTCATCCCACACGTGGGGAGACAGACACAGGGA CATGCCTCATGGGTGGACAGACACGGGACACTCACCCCACACGTGGGGAG ACAGACACAGGGACACGCCTCACGGGTGGACAGACACGGGACACTCACCC CACACGTGGGGAGACAGACACAGGGACACACCTCACGGGTGGACAGACAC GGGACACTCACCCCACACGTGGGGAGACAGACACAGGGACACGCCTCACG GGTGGACAGACAC	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	284	0.0035	412	c.916 others(425): Show c.916-32_916-31insGTGTCTGTCCACCCGTGAGGCGTGTCCCTGTG TCTGTCTCCCCACGTGTGGGGTGAGTGTCCCGTGTCTGTCCACCCGTGAG GTGTGTCCCTGTGTCTGTCTCCCCACGTGTGGGGTGAGTGTCCCGTGTCT GTCCACCCGTGAGGCGTGTCCCTGTGTCTGTCTCCCCACGTGTGGGGTGA GTGTCCCGTGTCTGTCCACCCATGAGGCATGTCCCTGTGTCTGTCTCCCC ACGTGTGGGATGAGTGTCCCGTGTCTGTCCACCCGTGAGGCGTGTCCCTG TGTCTGTCTCCCCACGTGTGGTGTGAGTGTCCCGTGTCTGTCCACCCGTG AGGCGTGTCCCTGTGTCTGTCTCCCCACGTGTGGGGTGCGTGTCCCGTGT CTGTCTCCCCATGTGTGGGGTGAGTGTCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	11/22			chr11	TogoVar

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