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
OPRK1_chr8_53220724_53256637	53253023	C C	CTTCATAA others(813): Show CTTCATAAGGAAGATGGCAGACAGTCTTCCCCGCATGTCTGGGAGCTCCT TTCCTGCCACAGTGATCCCATGCTGCCCCCAAACAAACCCAGCAAATAGT TTACTTGAGACTAACAAAAACTGAGTGGTATCAGTGTTAAAAAGAAAGTA AAAATAGTATGTCAAAAGGAAATAAGTGGGAAGTTCAAAATTATCCGTCT ATCTTTTTATCTATTACCTATTTGTCTATTTATCTATGATTCCATGCATC AAAGATACAATTGTGTTTGTGCTATACATTTTTGAAGGTGCCCGTATTTT CTATCTAGGCTTCTTTTGTACTCGTTTACCACATGGGTTGTTTTCTTTGG TTAGTGCACAGGTGGCTCTCACAGCTGGTAATGTTAGATCTGGGTTCAAA CACATATGGCTCTTGCCATATGCTTATTGAATAGAACTATTTCATATAAG GAGACAAATACAGAGCCACTTTTCCCCTCCAAAGACAAAATACATTTAGG AAGGGGATATTCAGCAAAGATGAAAAAAGAAAGGAAAAGTTATTATTTGA AAAGATTTAGGTAAAATTGTAAACAGGTGAAAACCTTTAAAGAAGTTACC AAGTTGATACAATTTCAACAATTCAGACTCTTGAACTCCATTTCTCACAT ATATCATGAGTGCAGAGGGGTTTTCCTTCCATAACAAAAGCAGGGGTACA AGACCAGCCTGGGATTTCTAAACTATAATAGGAGGTTCTCATTCTCATTA TTGATTAAAAAAAAAGTCCTCTTCTAGTTGAGACAGTCTTTTGAAGGTAA AACAAGACTAATTATGATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(22): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00609.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01496.hp1 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02132.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02886.hp2 HG02896.hp1 HG03098.hp1 HG03098.hp2 HG03491.hp2 HG03710.hp2 NA18906.hp2 NA18943.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0022 a0001c0001t0032 a0001c0001t0036 a0001c0002t0002 a0001c0002t0043 a0002c0005t0018	a0001c0001t0001g0008 a0001c0001t0001g0030 a0001c0001t0001g0031 others(15): Show a0001c0001t0001g0008 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0003g0032 a0001c0001t0003g0044 a0001c0001t0003g0128 a0001c0001t0004g0066 a0001c0001t0022g0067 a0001c0001t0022g0068 a0001c0001t0032g0127 a0001c0001t0036g0074 a0001c0002t0002g0069 a0001c0002t0043g0227 a0002c0005t0018g0070 a0002c0005t0018g0072	25	202	0.1238	820	c.-16 others(831): Show c.-1625_-1624insTTTATCATAATTAGTCTTGTTTTACCTTCAAAAG ACTGTCTCAACTAGAAGAGGACTTTTTTTTTAATCAATAATGAGAATGAG AACCTCCTATTATAGTTTAGAAATCCCAGGCTGGTCTTGTACCCCTGCTT TTGTTATGGAAGGAAAACCCCTCTGCACTCATGATATATGTGAGAAATGG AGTTCAAGAGTCTGAATTGTTGAAATTGTATCAACTTGGTAACTTCTTTA AAGGTTTTCACCTGTTTACAATTTTACCTAAATCTTTTCAAATAATAACT TTTCCTTTCTTTTTTCATCTTTGCTGAATATCCCCTTCCTAAATGTATTT TGTCTTTGGAGGGGAAAAGTGGCTCTGTATTTGTCTCCTTATATGAAATA GTTCTATTCAATAAGCATATGGCAAGAGCCATATGTGTTTGAACCCAGAT CTAACATTACCAGCTGTGAGAGCCACCTGTGCACTAACCAAAGAAAACAA CCCATGTGGTAAACGAGTACAAAAGAAGCCTAGATAGAAAATACGGGCAC CTTCAAAAATGTATAGCACAAACACAATTGTATCTTTGATGCATGGAATC ATAGATAAATAGACAAATAGGTAATAGATAAAAAGATAGACGGATAATTT TGAACTTCCCACTTATTTCCTTTTGACATACTATTTTTACTTTCTTTTTA ACACTGATACCACTCAGTTTTTGTTAGTCTCAAGTAAACTATTTGCTGGG TTTGTTTGGGGGCAGCATGGGATCACTGTGGCAGGAAAGGAGCTCCCAGA CATGCGGGGAAGACTGTCTGCCATCTTCCTTATGAA	OPRK1	ENSG00000082556.14	transcript	ENST00000265572.8	protein_coding		1387		chr8	TogoVar
OPRK1_chr8_53220724_53256637	53253023	C C	CTTCATAA others(813): Show CTTCATAAGGAAGATGGCAGACAGTCTTCCCCGCATGTCTGGGAGCTCCT TTCCTGCCACAGTGATCCCATGCTGCCCCCAAACAAACCCAGCAAATAGT TTACTTGAGACTAACAAAAACTGAGTGGTATCAGTGTTAAAAAGAAAGTA AAAATAGTATGTCAAAAGGAAATAAGTGGGAAGTTCAAAATTATCCGTCT ATCTTTTTATCTATTACCTATTTGTCTATTTATCTATGATTCCATGCATC AAAGATACAATTGTGTTTGTGCTATACATTTTTGAAGGTGCCCGTATTTT CTATCTAGGCTTCTTTTGTACTCGTTTACCACATTGGTTGTTTTCTTTGG TTAGTGCACAGGTGGCTCTCACAGCTGGTAATGTTAGATCTGGGTTCAAA CACATATGGCTCTTGCCATATGCTTATTGAATAGAACTATTTCATATAAG GAGACAAATACAGAGCCACTTTTCCCCTCCAAAGACAAAATACATTTAGG AAGGGGATATTCAGCAAAGATGAAAAAAGAAAGGAAAAGTTATTATTTGA AAAGATTTAGGTAAAATTGTAAACAGGTGAAAACCTTTAAAGAAGTTACC AAGTTGATACAATTTCAACAATTCAGACTCTTGAACTCCATTTCTCACAT ATATCATGAGTGCAGAGGGGTTTTCCTTCCATAACAAAAGCAGGGGTACA AGACCAGCCTGGGATTTCTAAACTATAATAGGAGGTTCTCATTCTCATTA TTGATTAAAAAAAAAGTCCTCTTCTAGTTGAGACAGTCTTTTGAAGGTAA AACAAGACTAATTATGATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00621.hp1 others(100): Show HG00408.hp2 HG00423.hp2 HG00621.hp1 HG00733.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01975.hp2 HG01993.hp1 HG02055.hp1 HG02109.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02300.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18951.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18965.hp1 NA18966.hp1 NA18970.hp2 NA18978.hp2 NA18988.hp1 NA19001.hp1 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19065.hp2 NA19074.hp2 NA19082.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0002c0005 a0004c0008	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(21): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0016 a0001c0001t0039 a0001c0002t0002 a0001c0002t0010 a0001c0002t0026 a0001c0002t0029 a0001c0004t0002 a0001c0004t0014 a0001c0004t0019 a0001c0004t0027 a0001c0004t0028 a0001c0004t0030 a0001c0006t0007 a0001c0006t0024 a0001c0007t0007 a0001c0007t0017 a0002c0005t0009 a0002c0005t0020 a0002c0005t0025 a0004c0008t0002	a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0076 others(69): Show a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0085 a0001c0001t0003g0089 a0001c0001t0003g0142 a0001c0001t0004g0048 a0001c0001t0005g0216 a0001c0001t0013g0014 a0001c0001t0013g0084 a0001c0001t0016g0215 a0001c0001t0039g0097 a0001c0002t0002g0004 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0064 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0086 a0001c0002t0002g0088 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0188 a0001c0002t0002g0192 a0001c0002t0010g0009 a0001c0002t0010g0087 a0001c0002t0010g0090 a0001c0002t0026g0075 a0001c0002t0029g0083 a0001c0004t0002g0005 a0001c0004t0002g0129 a0001c0004t0002g0130 a0001c0004t0002g0131 a0001c0004t0002g0132 a0001c0004t0002g0133 a0001c0004t0002g0137 a0001c0004t0002g0181 a0001c0004t0014g0039 a0001c0004t0014g0185 a0001c0004t0019g0134 a0001c0004t0019g0136 a0001c0004t0027g0099 a0001c0004t0028g0135 a0001c0004t0030g0100 a0001c0006t0007g0028 a0001c0006t0007g0029 a0001c0006t0007g0057 a0001c0006t0007g0058 a0001c0006t0007g0059 a0001c0006t0007g0061 a0001c0006t0024g0060 a0001c0007t0007g0187 a0001c0007t0017g0027 a0002c0005t0009g0024 a0002c0005t0009g0049 a0002c0005t0009g0191 a0002c0005t0009g0193 a0002c0005t0020g0189 a0002c0005t0020g0190 a0002c0005t0025g0194 a0004c0008t0002g0093	103	280	0.3679	820	c.-16 others(831): Show c.-1625_-1624insTTTATCATAATTAGTCTTGTTTTACCTTCAAAAG ACTGTCTCAACTAGAAGAGGACTTTTTTTTTAATCAATAATGAGAATGAG AACCTCCTATTATAGTTTAGAAATCCCAGGCTGGTCTTGTACCCCTGCTT TTGTTATGGAAGGAAAACCCCTCTGCACTCATGATATATGTGAGAAATGG AGTTCAAGAGTCTGAATTGTTGAAATTGTATCAACTTGGTAACTTCTTTA AAGGTTTTCACCTGTTTACAATTTTACCTAAATCTTTTCAAATAATAACT TTTCCTTTCTTTTTTCATCTTTGCTGAATATCCCCTTCCTAAATGTATTT TGTCTTTGGAGGGGAAAAGTGGCTCTGTATTTGTCTCCTTATATGAAATA GTTCTATTCAATAAGCATATGGCAAGAGCCATATGTGTTTGAACCCAGAT CTAACATTACCAGCTGTGAGAGCCACCTGTGCACTAACCAAAGAAAACAA CCAATGTGGTAAACGAGTACAAAAGAAGCCTAGATAGAAAATACGGGCAC CTTCAAAAATGTATAGCACAAACACAATTGTATCTTTGATGCATGGAATC ATAGATAAATAGACAAATAGGTAATAGATAAAAAGATAGACGGATAATTT TGAACTTCCCACTTATTTCCTTTTGACATACTATTTTTACTTTCTTTTTA ACACTGATACCACTCAGTTTTTGTTAGTCTCAAGTAAACTATTTGCTGGG TTTGTTTGGGGGCAGCATGGGATCACTGTGGCAGGAAAGGAGCTCCCAGA CATGCGGGGAAGACTGTCTGCCATCTTCCTTATGAA	OPRK1	ENSG00000082556.14	transcript	ENST00000265572.8	protein_coding		1387		chr8	TogoVar
PCBP3_chr21_45638725_45947450	45909792	C C	CCCCCCCC others(813): Show CCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCA GATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCA CTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCGGC CCACCCACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACAGAC CTGGCCCACCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGAT ACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCACCCAC TGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCC CCGCCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGATACGGA CCCGGCCCACCCACTGCCCAGATACGGACCTGGCCACCCACTGCCCAGAT ACGGACCCGGCCACCCACTGCCCAGATACAGACCCGGCCCACCCACTGCC CAGATATGGACCCCCCCAACCCACTTCCCAGATACGGACCCCCCCACACA CACTTCCCAGATACGGACCCCCCCACACACACTTCCCAGATACGGACCCC CCTCACCTGCTTCCCAAATATGGACCTGGCCCACCCACTGCCCAGATATG GACCCCCCCCACCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAG ATACGGACCCCCCCCCGCCCACTGCCCAGATACGGACCCCCCCCGCCCAC TGCCCAGATACGGACCCCCCCCCGCCCACTGCCCAGATACGGACCCCCCC CGCCCACTGCCCAGATACGGA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0278 a0001c0001t0005g0278	1	177	0.0056	820	c.471 others(835): Show c.471+314_471+315insCACCCACTGCCCAGATACGGACCCCCCCCG CCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACC CGGCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGAT ACGGACCCGGCCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGCC CAGATACAGACCTGGCCCACCCACTGCCCAGATACGGACCCCCCCCGCCC ACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCC CCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATAC GGACCCCCCCCCCGCCCACTGCCCAGATACGGACCCCCCCCGCCCACTGC CCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCTGGCCACCC ACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACAGACCCGGCC CACCCACTGCCCAGATATGGACCCCCCCAACCCACTTCCCAGATACGGAC CCCCCCACACACACTTCCCAGATACGGACCCCCCCACACACACTTCCCAG ATACGGACCCCCCTCACCTGCTTCCCAAATATGGACCTGGCCCACCCACT GCCCAGATATGGACCCCCCCCACCACTGCCCAGATACGGACCCCCCCCAC CCACTGCCCAGATACGGACCCCCCCCCGCCCACTGCCCAGATACGGACCC CCCCCGCCCACTGCCCAGATACGGACCCCCCCCCGCCCACTGCCCAGATA CGGACCCCCCCCGCCCACTGCCCAGATACGGACCCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCDH11X_chrX_91774375_92628230	92437620	T T	TGCTTTTG others(813): Show TGCTTTTGAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT CTTTTTTTTTTGTTTTTTTTTTTTGTTTTTTTTTTTGTTTTTTTTTTTGT TTTTTTTTTTTTCTTTTTTTTTTTTTTTATTATACTCTCAGTTTTAGGGT ACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCT GGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAA TGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGAT ATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGA GTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGA ATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATC ATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCT TAATCCAGACTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCT ATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCA GCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGT CAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTC CACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCC TATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGA TTGCCATTCTAACTGGTGTGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0022 a0001c0001t0019g0022	1	152	0.0066	820	c.334 others(841): Show c.3344-30666_3344-30665insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTCTTTTTTTTTTGTTTTTTTTTTTTGTTTTTTTTTTTGT TTTTTTTTTTGTTTTTTTTTTTTTCTTTTTTTTTTTTTTTATTATACTCT CAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATAC ATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGG TATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCC CCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAAT TCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGAT AGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGA TATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGT GCCACATTTTCTTAATCCAGACTATCATTGTTGGACATTTGGGTTGGTTC CAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGT GTCTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATG GGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGC CACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTG TAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTG ACTTTTTAATGATTGCCATTCTAACTGGTGTGAGCTTTTGAGTCTT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	9/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(813): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCT GAATAGATCTTTTCAGAATAGATCTATTCTGAATAGATCTTTTCAGAATA GATCTATTCTGAATAGATCTTTTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0018 a0001c0001t0009g0018	1	50	0.0200	820	c.129 others(837): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAAAAGATCTATTCAGAATAGATCTATTCTG AAAAGATCTATTCAGAATAGATCTATTCTGAAAAGATCTATTCAGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCCG AAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(813): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTTTTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCTGAATAGATCTTTTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0116 a0001c0001t0003g0116	1	50	0.0200	820	c.129 others(837): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAAAAGATCTATTCAGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAAAAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCCG AAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PLCL2_chr3_16879955_17095604	17063256	T T	TCCTCCCT others(813): Show TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT GCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTGCCTTCCTCCCTTCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTC CTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTGCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	140	0.0071	820	c.309 others(839): Show c.3095-4693_3095-4692insCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTGCCTTCCTCCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	17063256	T T	TCCTCCCT others(813): Show TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT GCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTGCCTTCCTCCCTTCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTC CTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTGCCTCCCTC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	140	0.0071	820	c.309 others(839): Show c.3095-4693_3095-4692insCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTGCCTTCCTCCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP1R14C_chr6_150138044_150255392	150167973	T T	TCCTTCTC others(813): Show TCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCT TTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTC TCTCCTTCTTCTTCCCTCTTTCTTCCCTTCTCTCCTCCCCTCTTTCTCTC CTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCC CCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCT CTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCT CCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTT TCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCC CTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCT CTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTC CCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTT CTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCC CTTCTCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	67	0.0149	820	c.306 others(839): Show c.306+24490_306+24491insCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCC CTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTC TCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCTCTTTCTCTCCTTCTTCTTCCCTCTTTCTTCCCTTCTCTCCTCCCCTC TTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCC CTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCT CCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTC CTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCC TTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCT CCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTT CTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCC TCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCC TTTCTCCCCTTCTCTCCTCCCCTTCCTCCCCTTCTCTCCTCCCC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRPF6_chr20_63976132_64038100	64012433	A A	AGAGGAGG others(813): Show AGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGAT ACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGT AGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTC TTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACG GCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGA AGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGG AGGACAGGAAGTCTCACGGCTTTCTTTGCTAGTAGAAATGATACACCTAC GAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGA TACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAG TAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTT CTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCAC GGCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAG TCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAG GACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTA CGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATG ATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTA GTAGAAATGATACACCTACGG	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	292	0.0034	820	c.152 others(839): Show c.1524+1074_1524+1075insCTTTCTTTGCTAGTAGAAATGATACA CCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGA AATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTT GCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCT TTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTC ACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACA GGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAG AGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATAC ACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTTCTTTGCTAGTAGAAA TGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGC TAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTC TTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCT CACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGAC AGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGG GAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATA CACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTA GAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTT	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB11FIP3_chr16_420649_528011	494803	A A	AGAGGTGG others(813): Show AGAGGTGGGAGGATCACATGAGCCGGGGAGGTCGAGGTTGCAGAGGTGGG AGGATCACATGAGCCGGGGAGGTCGAGGCTGCTGAGGTGGGAGGATCACA TGAGCCGGGGAGGTCGAGGCTGCAGAGGTGGGAGGATCACATGAGCCGGG GAGGTCGAGGCTGCAGAGGTGGGAGGATCACATGAGCCGGGGAGGTCGAG GCTGCAGAGGTGGGAGGATCACATGAGCCGGGGAGGTCGAGGCTGCAGAG GTGGGAGGATCACATGAGCCGGGGAGGTCGAGGCTGCAGAGGTGGGAGGA TCACATGAGCCGGGGAGGTCGAGGCTGCAGAGGTGGGAGGATCACATGAG CCGGGGAGGTCGAGGCTGCAGAGGTGGGAGGATCACATGAGCCGGGGAGG TCGAGGTTGCAGAGGTGGGAGGATCACATGAGCCGGGGAGGTCGAGGCTG CAGAGGTGGGAGGATCACATGAGCCGGGGAGGTCGAGGCTGCAGAGGTGG GAGGATCACATGAGCCGGGGAGGTCGAGGCTGCAGAGGTGGGAGGATCAC ATGAGCCGGGGAGGTCGAGGCTGCAGAGGTGGGAGGATCACATGAGCCGG GGAGGTCGAGGCTGCAGAGGTGGGAGGATCACATGAGCCGGGGAGGTCGA GGCTGCAGAGGTGGGAGGATCACATGAGCCGGGGAGGTCGAGGCTGCAGA GGTGGGAGGATCACATGAGCCGGGGAGGTCGAGGCTGCTGAGGTGGGAGG ATCACATGAGCCGGGGAGGTCGAGGCTGCAGAGGTGGGAGGATCACATGA GCCGGGGAGGTCGAGGCTGCT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0203 a0001c0001t0008g0203	1	292	0.0034	820	c.126 others(839): Show c.1266-1998_1266-1997insGGGGAGGTCGAGGTTGCAGAGGTGGG AGGATCACATGAGCCGGGGAGGTCGAGGCTGCTGAGGTGGGAGGATCACA TGAGCCGGGGAGGTCGAGGCTGCAGAGGTGGGAGGATCACATGAGCCGGG GAGGTCGAGGCTGCAGAGGTGGGAGGATCACATGAGCCGGGGAGGTCGAG GCTGCAGAGGTGGGAGGATCACATGAGCCGGGGAGGTCGAGGCTGCAGAG GTGGGAGGATCACATGAGCCGGGGAGGTCGAGGCTGCAGAGGTGGGAGGA TCACATGAGCCGGGGAGGTCGAGGCTGCAGAGGTGGGAGGATCACATGAG CCGGGGAGGTCGAGGCTGCAGAGGTGGGAGGATCACATGAGCCGGGGAGG TCGAGGTTGCAGAGGTGGGAGGATCACATGAGCCGGGGAGGTCGAGGCTG CAGAGGTGGGAGGATCACATGAGCCGGGGAGGTCGAGGCTGCAGAGGTGG GAGGATCACATGAGCCGGGGAGGTCGAGGCTGCAGAGGTGGGAGGATCAC ATGAGCCGGGGAGGTCGAGGCTGCAGAGGTGGGAGGATCACATGAGCCGG GGAGGTCGAGGCTGCAGAGGTGGGAGGATCACATGAGCCGGGGAGGTCGA GGCTGCAGAGGTGGGAGGATCACATGAGCCGGGGAGGTCGAGGCTGCAGA GGTGGGAGGATCACATGAGCCGGGGAGGTCGAGGCTGCTGAGGTGGGAGG ATCACATGAGCCGGGGAGGTCGAGGCTGCAGAGGTGGGAGGATCACATGA GCCGGGGAGGTCGAGGCTGCTGAGGTGGGAGGATCACATGAGCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBBP8_chr18_22928328_23031486	23022668	T T	TAAAATAA others(813): Show TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TACATAAAAAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0291 a0001c0002t0002g0291	1	321	0.0031	820	c.259 others(837): Show c.2596+401_2596+402insATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATACATAAAAAAAATAAAATAAAAA	RBBP8	ENSG00000101773.19	transcript	ENST00000327155.10	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr18	TogoVar
RNF170_chr8_42848301_42901605	42884900	T T	TCATGTTG others(813): Show TCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGGGATCCACCTG CCTCAGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCGACTGCGCCTGG CAATAATGGAAACTTTTTACTTTGGGCTTCACATCATTCTAGTCTGGAGA TGTGGAGAAAAAACTTTTATCATACAAATAATAAATATTCATAGTAGAGA AATCAGAAAATAATAGAAAAATATTTAAAATAAAAATAGCCGGGTGTGGT GGCTCAAGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCA CGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCT CTACTAAAAATATAAAAAATTAGCCTGGCGCGATGGCGGGCGCCTATAGT CCCAGCTACTCGGGAGGCCGAGGCAGGAGAATGGCATGGTGTGAACCCGG GAGGCGGAGCTTGCAGCGAGCCGACATAGGGCGAAAGAGTGAGACGCCGT CTCAAAAAAAAAAAAAAAAAAAATAGTCTTCGCCGGGCACGGTGGCTCAC ACCTGTAATCCCAACACTTTGGGAGGCTAGGGCAGGTGGATCCCCTGAGG TCAGGCGAAAGCGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGGATGGA GTTTTGCTCTTGTCGCCCAGGCTGGAGTGCAATGGTACGATCTCGGCTCA CGGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCAGGCTCAGCCTCCC GAGTAGCGGCACTACGGGCATATGCTACCACACCTGGCTAATTTTCATAT TTTTAGTAGAGACAGGGTCAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG02615.hp2 others(10): Show HG01243.hp1 HG02109.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02886.hp1 HG02922.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03516.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0012 a0001c0002t0002g0118 others(6): Show a0001c0002t0002g0002 a0001c0002t0002g0012 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0137	13	166	0.0783	820	c.137 others(837): Show c.137+2827_137+2828insGTGACCCTGTCTCTACTAAAAATATGAA AATTAGCCAGGTGTGGTAGCATATGCCCGTAGTGCCGCTACTCGGGAGGC TGAGCCTGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATCGTACCATTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCCATCC TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCGCTTTCGCCTGACCTCAGG GGATCCACCTGCCCTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCC ACCGTGCCCGGCGAAGACTATTTTTTTTTTTTTTTTTTTTGAGACGGCGT CTCACTCTTTCGCCCTATGTCGGCTCGCTGCAAGCTCCGCCTCCCGGGTT CACACCATGCCATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGACTATAG GCGCCCGCCATCGCGCCAGGCTAATTTTTTATATTTTTAGTAGAGACGGG GTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCG CCCACCTCGGCCTCCCAAAGTGCTGGGATGACAGGCTTGAGCCACCACAC CCGGCTATTTTTATTTTAAATATTTTTCTATTATTTTCTGATTTCTCTAC TATGAATATTTATTATTTGTATGATAAAAGTTTTTTCTCCACATCTCCAG ACTAGAATGATGTGAAGCCCAAAGTAAAAAGTTTCCATTATTGCCAGGCG CAGTCGCTCACGCCTGTAATCCCAACACTTTGGGAGACTGAGGCAGGTGG ATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATG	RNF170	ENSG00000120925.16	transcript	ENST00000527424.6	protein_coding	2/6			chr8	TogoVar
RNF170_chr8_42848301_42901605	42884900	T T	TCATGTTG others(813): Show TCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGGGATCCACCTG CCTCAGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCGACTGCGCCTGG CAATAATGGAAACTTTTTACTTTGGGCTTCACATCATTCTAGTCTGGAGA TGTGGAGAAAAAACTTTTATCATACAAATAATAAATATTCATAGTAGAGA AATCAGAAAATAATAGAAAAATATTTAAAATAAAAATAGCCGGGTGTGGT GGCTCAAGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCA CGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCT CTACTAAAAATATAAAAAATTAGCCTGGCGCGATGGCGGGCGCCTATAGT CCCAGCTACTCGGGAGGCCGAGGCAGGAGAATGGCATGGTGTGAACCCGG GAGGCGGAGCTTGCAGCGAGCCGACATAGGGCGAAAGAGTGAGACGCCGT CTCAAAAAAAAAAAAAAAAAAATAGTCTTCGCCGGGCACGGTGGCTCACA CCTGTAATCCCAACACTTTGGGAGGCTAGGGCAGGTGGATCCCCTGAGGT CAGGCGAAAGCGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGATGGA GTTTTGCTCTTGTCGCCCAGGCTGGAGTGCAATGGTACGATCTCGGCTCA CGGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCC GAGTAGCGGCACTACGGGCATATGCTACCACACCTGGCTAATTTTCATAT TTTTAGTAGAGACAGGGTCAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA20129.hp2 NA20300.hp2 HG03209.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130	3	156	0.0192	820	c.137 others(837): Show c.137+2827_137+2828insGTGACCCTGTCTCTACTAAAAATATGAA AATTAGCCAGGTGTGGTAGCATATGCCCGTAGTGCCGCTACTCGGGAGGC TGAGGCTGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATCGTACCATTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCCATCC TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCGCTTTCGCCTGACCTCAG GGGATCCACCTGCCCTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGC CACCGTGCCCGGCGAAGACTATTTTTTTTTTTTTTTTTTTGAGACGGCGT CTCACTCTTTCGCCCTATGTCGGCTCGCTGCAAGCTCCGCCTCCCGGGTT CACACCATGCCATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGACTATAG GCGCCCGCCATCGCGCCAGGCTAATTTTTTATATTTTTAGTAGAGACGGG GTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCG CCCACCTCGGCCTCCCAAAGTGCTGGGATGACAGGCTTGAGCCACCACAC CCGGCTATTTTTATTTTAAATATTTTTCTATTATTTTCTGATTTCTCTAC TATGAATATTTATTATTTGTATGATAAAAGTTTTTTCTCCACATCTCCAG ACTAGAATGATGTGAAGCCCAAAGTAAAAAGTTTCCATTATTGCCAGGCG CAGTCGCTCACGCCTGTAATCCCAACACTTTGGGAGACTGAGGCAGGTGG ATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATG	RNF170	ENSG00000120925.16	transcript	ENST00000527424.6	protein_coding	2/6			chr8	TogoVar
RNF170_chr8_42848301_42901605	42884900	T T	TCATGTTG others(813): Show TCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGGGATCCACCTG CCTCAGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCGACTGCGCCTGG CAATAATGGAAACTTTTTACTTTGGGCTTCACATCATTCTAGTCTGGAGA TGTGGAGAAAAAACTTTTATCATACAAATAATAAATATTCATAGTAGAGA AATCAGAAAATAATAGAAAAATATTTAAAATAAAAATAGCCGGGTGTGGT GGCTCAAGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCA CGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCT CTACTAAAAATATAAAAAATTAGCCTGGCGCGATGGCGGGCGCCTATAGT CCCAGCTACTCGGGAGGCCGAGGCAGGAGAATGGCATGGTGTGAACCCGG GAGGCGGAGCTTGCAGCGAGCCGACATAGGGCGAAAGAGTGAGACGCGGT CTCAAAAAAAAAAAAAAAAAAATAGTCTTCGCCGGGCACGGTGGCTCACA CCTGTAATCCCAACACTTTGGGAGGCTAGGGCAGGTGGATCCCCTGAGGT CAGGCGAAAGCGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGATGGA GTTTTGCTCTTGTCGCCCAGGCTGGAGTGCAATGGTACGATCTCGGCTCA CGGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCC GAGTAGCGGCACTACGGGCATATGCTACCACACCTGGCTAATTTTCATAT TTTTAGTAGAGACAGGGTCAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02895.hp2 HG02897.hp2 others(1): Show HG02451.hp1 HG02895.hp2 HG02897.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0132 a0001c0001t0005g0133 others(1): Show a0001c0001t0005g0032 a0001c0001t0005g0132 a0001c0001t0005g0133 a0001c0001t0005g0134	4	157	0.0255	820	c.137 others(837): Show c.137+2827_137+2828insGTGACCCTGTCTCTACTAAAAATATGAA AATTAGCCAGGTGTGGTAGCATATGCCCGTAGTGCCGCTACTCGGGAGGC TGAGGCTGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATCGTACCATTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCCATCC TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCGCTTTCGCCTGACCTCAG GGGATCCACCTGCCCTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGC CACCGTGCCCGGCGAAGACTATTTTTTTTTTTTTTTTTTTGAGACCGCGT CTCACTCTTTCGCCCTATGTCGGCTCGCTGCAAGCTCCGCCTCCCGGGTT CACACCATGCCATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGACTATAG GCGCCCGCCATCGCGCCAGGCTAATTTTTTATATTTTTAGTAGAGACGGG GTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCG CCCACCTCGGCCTCCCAAAGTGCTGGGATGACAGGCTTGAGCCACCACAC CCGGCTATTTTTATTTTAAATATTTTTCTATTATTTTCTGATTTCTCTAC TATGAATATTTATTATTTGTATGATAAAAGTTTTTTCTCCACATCTCCAG ACTAGAATGATGTGAAGCCCAAAGTAAAAAGTTTCCATTATTGCCAGGCG CAGTCGCTCACGCCTGTAATCCCAACACTTTGGGAGACTGAGGCAGGTGG ATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATG	RNF170	ENSG00000120925.16	transcript	ENST00000527424.6	protein_coding	2/6			chr8	TogoVar
RNF170_chr8_42848301_42901605	42884900	T T	TCATGTTG others(813): Show TCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGGGATCCACCTG CCTCAGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCGACTGCGCCTGG CAATAATGGAAACTTTTTACTTTGGGCTTCACATCATTCTAGTCTGGAGA TGTGGAGAAAAAACTTTTATCATACAAATAATAAATATTCATAGTAGAGA AATCAGAAAATAATAGAAAAATATTTAAAATAAAAATAGCCGGGTGTGGT GGCTCAAGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCA CGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCATCT CTACTAAAAATATAAAAAATTAGCCTGGCGCGATGGCGGGCGCCTATAGT CCCAGCTACTCGGGAGGCCGAGGCAGGAGAATGGCATGGTGTGAACCCGG GAGGCGGAGCTTGCAGCGAGCCGACATAGGGCGAAAGAGTGAGACGCCGT CTCAAAAAAAAAAAAAAAAAAAATAGTCTTCGCCGGGCACGGTGGCTCAC ACCTGTAATCCCAACACTTTGGGAGGCTAGGGCAGGTGGATCCCCTGAGG TCAGGCGAAAGCGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGGATGGA GTTTTGCTCTTGTCGCCCAGGCTGGAGTGCAGTGGTACGATCTCGGCTCA CGGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCC GAGTAGCGGCACTACGGGCATATGCTACCACACCTGGCTAATTTTCATAT TTTTAGTAGAGACAGGGTCAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA19043.hp1 HG02886.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0174 a0001c0001t0003g0175	2	155	0.0129	820	c.137 others(837): Show c.137+2827_137+2828insGTGACCCTGTCTCTACTAAAAATATGAA AATTAGCCAGGTGTGGTAGCATATGCCCGTAGTGCCGCTACTCGGGAGGC TGAGGCTGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATCGTACCACTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCCATCC TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCGCTTTCGCCTGACCTCAGG GGATCCACCTGCCCTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCC ACCGTGCCCGGCGAAGACTATTTTTTTTTTTTTTTTTTTTGAGACGGCGT CTCACTCTTTCGCCCTATGTCGGCTCGCTGCAAGCTCCGCCTCCCGGGTT CACACCATGCCATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGACTATAG GCGCCCGCCATCGCGCCAGGCTAATTTTTTATATTTTTAGTAGAGATGGG GTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCG CCCACCTCAGCCTCCCAAAGTGCTGGGATGACAGGCTTGAGCCACCACAC CCGGCTATTTTTATTTTAAATATTTTTCTATTATTTTCTGATTTCTCTAC TATGAATATTTATTATTTGTATGATAAAAGTTTTTTCTCCACATCTCCAG ACTAGAATGATGTGAAGCCCAAAGTAAAAAGTTTCCATTATTGCCAGGCG CAGTCGCTCACGCCTGTAATCCCAACACTTTGGGAGACTGAGGCAGGTGG ATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATG	RNF170	ENSG00000120925.16	transcript	ENST00000527424.6	protein_coding	2/6			chr8	TogoVar
RNF170_chr8_42848301_42901605	42884900	T T	TCATGTTG others(813): Show TCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGGGATCCACCTG CCTCAGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCGACTGCGCCTGG CAATAATGGAAACTTTTTACTTTGGGCTTCACATCATTCTAGTCTGGAGA TGTGGAGAAAAAACTTTTATCATACAAATAATAAATATTCATAGTAGAGA AATCAGAAAATAATAGAAAAATATTTAAAATAAAAATAGCCGGGTGTGGT GGCTCAAGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCA CGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCT CTACTAAAAATATAAAAAATTAGCCTGGCGCGATGGCAGGCGCCTATAGT CCCAGCTACTCGGGAGGCCGAGGCAGGAGAATGGCATGGTGTGAACCCGG GAGGCGGAGCTTGCAGCGAGCCGACATAGGGCGAAAGAGTGAGACGCCGT CTCAAAAAAAAAAAAAAAAAAAATAGTCTTCGCCGGGCACGGTGGCTCAC ACCTGTAATCCCAACACTTTGGGAGGCTAGGGCAGGTGGATCCCCTGAGG TCAGGCGAAAGCGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGGATGGA GTTTTGCTCTTGTCGCCCAGGCTGGAGTGCAGTGGTACGATCTCGGCTCA CGGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCC GAGTAGCGGCACTACGGGCATATGCTACCACACCTGGCTAATTTTCATAT TTTTAGTAGAGACAGGGTCAC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	154	0.0065	820	c.137 others(837): Show c.137+2827_137+2828insGTGACCCTGTCTCTACTAAAAATATGAA AATTAGCCAGGTGTGGTAGCATATGCCCGTAGTGCCGCTACTCGGGAGGC TGAGGCTGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATCGTACCACTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCCATCC TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCGCTTTCGCCTGACCTCAGG GGATCCACCTGCCCTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCC ACCGTGCCCGGCGAAGACTATTTTTTTTTTTTTTTTTTTTGAGACGGCGT CTCACTCTTTCGCCCTATGTCGGCTCGCTGCAAGCTCCGCCTCCCGGGTT CACACCATGCCATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGACTATAG GCGCCTGCCATCGCGCCAGGCTAATTTTTTATATTTTTAGTAGAGACGGG GTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCG CCCACCTCAGCCTCCCAAAGTGCTGGGATGACAGGCTTGAGCCACCACAC CCGGCTATTTTTATTTTAAATATTTTTCTATTATTTTCTGATTTCTCTAC TATGAATATTTATTATTTGTATGATAAAAGTTTTTTCTCCACATCTCCAG ACTAGAATGATGTGAAGCCCAAAGTAAAAAGTTTCCATTATTGCCAGGCG CAGTCGCTCACGCCTGTAATCCCAACACTTTGGGAGACTGAGGCAGGTGG ATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATG	RNF170	ENSG00000120925.16	transcript	ENST00000527424.6	protein_coding	2/6			chr8	TogoVar
RNF170_chr8_42848301_42901605	42884900	T T	TCATGTTG others(813): Show TCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGGGATCCACCTG CCTCAGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCGACTGCGCCTGG CAATAATGGAAACTTTTTACTTTGGGCTTCACATCATTCTAGTCTGGAGA TGTGGAGAAAAAACTTTTATCATACAAATAATAAATATTCATAGTAGAGA AATCAGAAAATAATAGAAAAATATTTAAAATAAAAATAGCCGGGTGTGGT GGCTCAAGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCA CGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCT CTACTAAAAATATAAAAAATTAGCCTGGCGCGATGGCGGGCGCCTATAGT CCCAGCTACTCGGGAGGCCGAGGCAGGAGAATGGCATGGTGTGAACCCGG GAGGCGGAGCTTGCAGCGAGCCGACATAGGGCGAAAGAGTGAGACGCCGT CTCAAAAAAAAAAAAAAAAAAAATAGTCTTCGCCGGGCACGGTGGCTCAC ACCTGTAATCCCAACACTTTGGGAGGCTAGGGCAGGTGGATCCCCTGAGG TCAGGCGAAAGCGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGGATGGA GTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGTACGATCTCGGCTCA CGGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCC GAGTAGCGGCACTACGGGCATATGCTACCACACCTGGCTAATTTTCATAT TTTTAGTAGAGACAGGGTCAC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0025 a0001c0001t0004g0025	1	154	0.0065	820	c.137 others(837): Show c.137+2827_137+2828insGTGACCCTGTCTCTACTAAAAATATGAA AATTAGCCAGGTGTGGTAGCATATGCCCGTAGTGCCGCTACTCGGGAGGC TGAGGCTGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATCGTACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCATCC TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCGCTTTCGCCTGACCTCAGG GGATCCACCTGCCCTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCC ACCGTGCCCGGCGAAGACTATTTTTTTTTTTTTTTTTTTTGAGACGGCGT CTCACTCTTTCGCCCTATGTCGGCTCGCTGCAAGCTCCGCCTCCCGGGTT CACACCATGCCATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGACTATAG GCGCCCGCCATCGCGCCAGGCTAATTTTTTATATTTTTAGTAGAGACGGG GTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCG CCCACCTCAGCCTCCCAAAGTGCTGGGATGACAGGCTTGAGCCACCACAC CCGGCTATTTTTATTTTAAATATTTTTCTATTATTTTCTGATTTCTCTAC TATGAATATTTATTATTTGTATGATAAAAGTTTTTTCTCCACATCTCCAG ACTAGAATGATGTGAAGCCCAAAGTAAAAAGTTTCCATTATTGCCAGGCG CAGTCGCTCACGCCTGTAATCCCAACACTTTGGGAGACTGAGGCAGGTGG ATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATG	RNF170	ENSG00000120925.16	transcript	ENST00000527424.6	protein_coding	2/6			chr8	TogoVar
RNF170_chr8_42848301_42901605	42884900	T T	TCATGTTG others(813): Show TCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGGGATCCACCTG CCTCAGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCGACTGCGCCTGG CAATAATGGAAACTTTTTACTTTGGGCTTCACATCATTCTAGTCTGGAGA TGTGGAGAAAAAACTTTTATCATACAAATAATAAATATTCATAGTAGAGA AATCAGAAAATAATAGAAAAATATTTAAAATAAAAATAGCCGGGTGTGGT GGCTCAAGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCA CGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCT CTACTAAAAATATAAAAAATTAGCCTGGCGCGATGGCGGGCGCCTATAGT CCCAGCTACTCGGGAGGCCGAGGCAGGAGAATGGCATGGTGTGAACCCGG GAGGCGGAGCTTGCAGCGAGCCGACATAGGGCGAAAGAGTGAGACGCCGT CTCAAAAAAAAAAAAAAAAAAAATAGTCTTCGCCGGGCACGGTGGCTCAC ACCTGTAATCCCAACACTTTGGGAGGCTAGGGCAGGTGGATCCCCTGAGG TCAGGTGAAAGCGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGGATGGA GTTTTGCTCTTGTCGCCCAGGCTGGAGTGCAGTGGTACGATCTCGGCTCA CGGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCC GAGTAGCGGCACTACGGGCATATGCTACCACACCTGGCTAATTTTCATAT TTTTAGTAGAGACAGGGTCAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	154	0.0065	820	c.137 others(837): Show c.137+2827_137+2828insGTGACCCTGTCTCTACTAAAAATATGAA AATTAGCCAGGTGTGGTAGCATATGCCCGTAGTGCCGCTACTCGGGAGGC TGAGGCTGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATCGTACCACTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCCATCC TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCGCTTTCACCTGACCTCAGG GGATCCACCTGCCCTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCC ACCGTGCCCGGCGAAGACTATTTTTTTTTTTTTTTTTTTTGAGACGGCGT CTCACTCTTTCGCCCTATGTCGGCTCGCTGCAAGCTCCGCCTCCCGGGTT CACACCATGCCATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGACTATAG GCGCCCGCCATCGCGCCAGGCTAATTTTTTATATTTTTAGTAGAGACGGG GTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCG CCCACCTCAGCCTCCCAAAGTGCTGGGATGACAGGCTTGAGCCACCACAC CCGGCTATTTTTATTTTAAATATTTTTCTATTATTTTCTGATTTCTCTAC TATGAATATTTATTATTTGTATGATAAAAGTTTTTTCTCCACATCTCCAG ACTAGAATGATGTGAAGCCCAAAGTAAAAAGTTTCCATTATTGCCAGGCG CAGTCGCTCACGCCTGTAATCCCAACACTTTGGGAGACTGAGGCAGGTGG ATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATG	RNF170	ENSG00000120925.16	transcript	ENST00000527424.6	protein_coding	2/6			chr8	TogoVar
RNF170_chr8_42848301_42901605	42884900	T T	TCATGTTG others(813): Show TCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGGGATCCACCTG CCTCAGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCGACTGCGCCTGG CAATAATGGAAACTTTTTACTTTGGGCTTCACATCATTCTAGTCTGGAGA TGTGGAGAAAAAACTTTTATCATACAAATAATAAATATTCATAGTAGAGA AATCAGAAAATAATAGAAAAATATTTAAAATAAAAATAGCCGGGTGTGGT GGCTCAAGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCA CGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCT CTACTAAAAATATAAAAAATTAGCCTGGCGCGATGGCGGGCGCCTATAGT CCCAGCTACTCGGGAGGCCGAGGCAGGAGAATGGCATGGTGTGAACCCGG GAGGCGGAGCTTGCAGCGAGCCGACATAGGGCGAAAGAGTGAGATGCCGT CTCAAAAAAAAAAAAAAAAAAAATAGTCTTCGCCGGGCACGGTGGCTCAC ACCTGTAATCCCAACACTTTGGGAGGCTAGGGCAGGTGGATCCCCTGAGG TCAGGCGAAAGCGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGGATGGA GTTTTGCTCTTGTCGCCCAGGCTGGAGTGCAGTGGTACGATCTCGGCTCA CGGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCC GAGTAGCGGCACTACGGGCATATGCTACCACACCTGGCTAATTTTCATAT TTTTAGTAGAGACAGGGTCAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	154	0.0065	820	c.137 others(837): Show c.137+2827_137+2828insGTGACCCTGTCTCTACTAAAAATATGAA AATTAGCCAGGTGTGGTAGCATATGCCCGTAGTGCCGCTACTCGGGAGGC TGAGGCTGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATCGTACCACTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCCATCC TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCGCTTTCGCCTGACCTCAGG GGATCCACCTGCCCTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCC ACCGTGCCCGGCGAAGACTATTTTTTTTTTTTTTTTTTTTGAGACGGCAT CTCACTCTTTCGCCCTATGTCGGCTCGCTGCAAGCTCCGCCTCCCGGGTT CACACCATGCCATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGACTATAG GCGCCCGCCATCGCGCCAGGCTAATTTTTTATATTTTTAGTAGAGACGGG GTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCG CCCACCTCAGCCTCCCAAAGTGCTGGGATGACAGGCTTGAGCCACCACAC CCGGCTATTTTTATTTTAAATATTTTTCTATTATTTTCTGATTTCTCTAC TATGAATATTTATTATTTGTATGATAAAAGTTTTTTCTCCACATCTCCAG ACTAGAATGATGTGAAGCCCAAAGTAAAAAGTTTCCATTATTGCCAGGCG CAGTCGCTCACGCCTGTAATCCCAACACTTTGGGAGACTGAGGCAGGTGG ATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATG	RNF170	ENSG00000120925.16	transcript	ENST00000527424.6	protein_coding	2/6			chr8	TogoVar
RNF170_chr8_42848301_42901605	42884900	T T	TCATGTTG others(813): Show TCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGGGATCCACCTG CCTCAGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCGACTGCGCCTGG CAATAATGGAAACTTTTTACTTTGGGCTTCACATCATTCTAGTCTGGAGA TGTGGAGAAAAAACTTTTATCATACAAATAATAAATATTCATAGTAGAGA AATCAGAAAATAATAGAAAAATATTTAAAATAAAAATAGCCGGGTGTGGT GGCTCAAGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCA CGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCT CTACTAAAAATATAAAAAATTAGCCTGGCGCGATGGCGGGCGCCTATAGT CCCAGCTACTCGGGAGGCCGAGGCAGGAGAATGGCATGGTGTGAATCCGG GAGGCGGAGCTTGCAGCGAGCCGACATAGGGCGAAAGAGTGAGACGCCGT CTCAAAAAAAAAAAAAAAAAAAATAGTCTTCGCCGGGCACGGTGGCTCAC ACCTGTAATCCCAACACTTTGGGAGGCTAGGGCAGGTGGATCCCCTGAGG TCAGGCGAAAGCGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGGATGGA GTTTTGCTCTTGTCGCCCAGGCTGGAGTGCAGTGGTACGATCTCGGCTCA CGGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCC GAGTAGCGGCACTACGGGCATATGCTACCACACCTGGCTAATTTTCATAT TTTTAGTAGAGACAGGGTCAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01175.hp1 HG01070.hp1 HG01071.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0171 a0001c0001t0001g0013 a0001c0001t0001g0171	3	156	0.0192	820	c.137 others(837): Show c.137+2827_137+2828insGTGACCCTGTCTCTACTAAAAATATGAA AATTAGCCAGGTGTGGTAGCATATGCCCGTAGTGCCGCTACTCGGGAGGC TGAGGCTGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATCGTACCACTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCCATCC TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCGCTTTCGCCTGACCTCAGG GGATCCACCTGCCCTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCC ACCGTGCCCGGCGAAGACTATTTTTTTTTTTTTTTTTTTTGAGACGGCGT CTCACTCTTTCGCCCTATGTCGGCTCGCTGCAAGCTCCGCCTCCCGGATT CACACCATGCCATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGACTATAG GCGCCCGCCATCGCGCCAGGCTAATTTTTTATATTTTTAGTAGAGACGGG GTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCG CCCACCTCAGCCTCCCAAAGTGCTGGGATGACAGGCTTGAGCCACCACAC CCGGCTATTTTTATTTTAAATATTTTTCTATTATTTTCTGATTTCTCTAC TATGAATATTTATTATTTGTATGATAAAAGTTTTTTCTCCACATCTCCAG ACTAGAATGATGTGAAGCCCAAAGTAAAAAGTTTCCATTATTGCCAGGCG CAGTCGCTCACGCCTGTAATCCCAACACTTTGGGAGACTGAGGCAGGTGG ATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATG	RNF170	ENSG00000120925.16	transcript	ENST00000527424.6	protein_coding	2/6			chr8	TogoVar
RNF170_chr8_42848301_42901605	42884900	T T	TCATGTTG others(813): Show TCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGGGATCCACCTG CCTCAGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGTGACTGCGCCTGG CAATAATGGAAACTTTTTACTTTGGGCTTCACATCATTCTAGTCTGGAGA TGTGGAGAAAAAACTTTTATCATACAAATAATAAATATTCATAGTAGAGA AATCAGAAAATAATAGAAAAATATTTAAAATAAAAATAGCCGGGTGTGGT GGCTCAAGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCA CGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCT CTACTAAAAATATAAAAAATTAGCCTGGCGCGATGGCGGGCGCCTATAGT CCCAGCTACTCGGGAGGCCGAGGCAGGAGAATGGCATGGTGTGAACCCGG GAGGCGGAGCTTGCAGCGAGCCGACATAGGGCGAAAGAGTGAGACGCCGT CTCAAAAAAAAAAAAAAAAAAAATAGTCTTCGCCGGGCACGGTGGCTCAC ACCTGTAATCCCAACACTTTGGGAGGCTAGGGCAGGTGGATCCCCTGAGG TCAGGCGAAAGCGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGGATGGA GTTTTGCTCTTGTCGCCCAGGCTGGAGTGCAGTGGTACGATCTCGGCTCA CGGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCC GAGTAGCGGCACTACGGGCATATGCTACCACACCTGGCTAATTTTCATAT TTTTAGTAGAGACAGGGTCAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	154	0.0065	820	c.137 others(837): Show c.137+2827_137+2828insGTGACCCTGTCTCTACTAAAAATATGAA AATTAGCCAGGTGTGGTAGCATATGCCCGTAGTGCCGCTACTCGGGAGGC TGAGGCTGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATCGTACCACTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCCATCC TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCGCTTTCGCCTGACCTCAGG GGATCCACCTGCCCTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCC ACCGTGCCCGGCGAAGACTATTTTTTTTTTTTTTTTTTTTGAGACGGCGT CTCACTCTTTCGCCCTATGTCGGCTCGCTGCAAGCTCCGCCTCCCGGGTT CACACCATGCCATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGACTATAG GCGCCCGCCATCGCGCCAGGCTAATTTTTTATATTTTTAGTAGAGACGGG GTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCG CCCACCTCAGCCTCCCAAAGTGCTGGGATGACAGGCTTGAGCCACCACAC CCGGCTATTTTTATTTTAAATATTTTTCTATTATTTTCTGATTTCTCTAC TATGAATATTTATTATTTGTATGATAAAAGTTTTTTCTCCACATCTCCAG ACTAGAATGATGTGAAGCCCAAAGTAAAAAGTTTCCATTATTGCCAGGCG CAGTCACTCACGCCTGTAATCCCAACACTTTGGGAGACTGAGGCAGGTGG ATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATG	RNF170	ENSG00000120925.16	transcript	ENST00000527424.6	protein_coding	2/6			chr8	TogoVar
RNF213_chr17_80255852_80403794	80274587	T T	TGGGGGGT others(813): Show TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGG GTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGG GGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGTGGGGTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGA GTGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGG TGAGCGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGAGTGAGTGGG GTGAGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGG GTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGA GTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTGAG TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGTGGG GTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGT GGGGTGAGTGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGT CTGTGGGGGGTGTGGGGTGAGTGTGTGGGGTGAGTGGGGTGAGTGTGGGG GGTGAGTGGGGTGTCTGGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAG TGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGT GAGTGTGTGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGT GGGGGGTGAGTGGGGTGAGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG01109.hp2 others(1): Show HG00140.hp2 HG00280.hp1 HG01109.hp2 HG01952.hp1	a0001 a0002 a0033 a0001 a0002 a0033	a0001c0001 a0002c0002 a0033c0054 a0001c0001 a0002c0002 a0033c0054	a0001c0001t0001 a0001c0001t0041 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0041 a0002c0002t0002 a0033c0054t0004	a0001c0001t0001g0147 a0001c0001t0041g0088 a0002c0002t0002g0120 others(1): Show a0001c0001t0001g0147 a0001c0001t0041g0088 a0002c0002t0002g0120 a0033c0054t0004g0121	4	88	0.0455	820	c.261 others(837): Show c.261+1222_261+1223insAGTGTGGGGGGTGAGTGGGGTGAGTGTG GGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGG TGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGG GTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGGTGAGTGTGG GGGGTGAGTGGGGTGAGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGATGG GGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAG TGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGAGTGGGGTGAGTGGGGGGT GAGTGGGGTGTCTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTG AGTGTGGGGGGTGAGTGGGGTGAGTGTGTGGGGTGAGTGGGGTGTCTGTG GGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGGTG AGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGTGGGGT GAGTGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGG GGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGTGGGGGG TGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGTGGGGTGAGTG GGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGA GTGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RUSC2_chr9_35485111_35566895	35495159	T T	TTTTATAT others(813): Show TTTTATATATTATATTTTATATATAATATAATATATTTTATATATATTTT ATATATAATATAATATATTTTATATAATATATTATATATTATATAATATA TTTTATATAATATATTATATATTATATATAATATTTTATTATGTAATATA TAATATATATTTTATATATTATATATATTTTATTATATAATATATTTATA TATAATATATATTTTATATATAATATAATATATTTTATTTTATATAATGT ATTATATAATATATAATATATAACATATTTTATTATATATTATATAATAA TATATAACATATTTTATTATATATTATATAATAATATATAACATATTTTA TTATATATTATATAATAATATATAACATATTATATATTATATAATAATAT ATAACATATTTTATTATATAATATATAATATATTATATAATATATATTTT ATTGTATATAATATATTTTATTGTATATTATATATAATATATTTTATTGT ATATTATATATAATATATTTTATTGTATATTATATATAATATATTTTATT ATATAATTTATTATAATATATATATTTTATAATATATATAATATATTTTA TTATTATATATTTTATTATAATATATACAATATATTTTATTATAATATAT AATATATTTTATAATATATATATTTTATTATAATATATATATTTTATAAT ATATATATTTTATAATATATATATTTTATTATAATATATATTTTATTATA TATAATATATTTTATAATATATATAATATATTTTATTAAATATATATAAT ATATTTTATTAAATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18998.hp2 NA19007.hp1 HG02486.hp1 NA18998.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0001 a0001c0001t0005 a0001c0001t0010	a0001c0001t0001g0196 a0001c0001t0005g0195 a0001c0001t0010g0248 a0001c0001t0001g0196 a0001c0001t0005g0195 a0001c0001t0010g0248	3	108	0.0278	820	c.-93 others(837): Show c.-93+4987_-93+4988insTTTATATATTATATTTTATATATAATAT AATATATTTTATATATATTTTATATATAATATAATATATTTTATATAATA TATTATATATTATATAATATATTTTATATAATATATTATATATTATATAT AATATTTTATTATGTAATATATAATATATATTTTATATATTATATATATT TTATTATATAATATATTTATATATAATATATATTTTATATATAATATAAT ATATTTTATTTTATATAATGTATTATATAATATATAATATATAACATATT TTATTATATATTATATAATAATATATAACATATTTTATTATATATTATAT AATAATATATAACATATTTTATTATATATTATATAATAATATATAACATA TTATATATTATATAATAATATATAACATATTTTATTATATAATATATAAT ATATTATATAATATATATTTTATTGTATATAATATATTTTATTGTATATT ATATATAATATATTTTATTGTATATTATATATAATATATTTTATTGTATA TTATATATAATATATTTTATTATATAATTTATTATAATATATATATTTTA TAATATATATAATATATTTTATTATTATATATTTTATTATAATATATACA ATATATTTTATTATAATATATAATATATTTTATAATATATATATTTTATT ATAATATATATATTTTATAATATATATATTTTATAATATATATATTTTAT TATAATATATATTTTATTATATATAATATATTTTATAATATATATAATAT ATTTTATTAAATATATATAATATATTTTATTAAATATATATA	RUSC2	ENSG00000198853.12	transcript	ENST00000361226.8	protein_coding	1/11			chr9	TogoVar
SCARA5_chr8_27864883_27997673	27918978	A A	AGGAGGAG others(813): Show AGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAG GAGGAGAAGGAGGAGGAGAAAGAGGAGGAGGAGGAAGAGGAGGAAGAGGA GAAAGAGGAGGAAAAGAAGGAGGAGGAGGAAGAGAAAAGGAGGAGGAGGG GAAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAGAAGAAAGGGG AGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGAGAAAAGGAGG AGGAGAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACAGGAGGAGGAGA AGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAG GAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAG AAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGG AGGAGAAGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAGGAGGAGAAGGAA GAAGAGGAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGAGGAAGAGGAGAA AGAGGAGGAGGAGGGGAAAGAAGAGGATAAGGAAGAAAGGGAAGAGGAGA GGGAAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAGGAGGAGGAGAAAAAG AGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAGGAAAAGCAGGAGGAGAAG GAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAGGAGGAGAAGGAGGAGGAA TGGGAGGAGGAGGAGAGAATAGAGGAGGAGGGAATAGAGGAGGAGGAGAG AAGGGAGGAGGAGAAGAGAAG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	217	0.0046	820	c.916 others(837): Show c.916+2592_916+2593insCTTCTCTTCTCCTCCTCCCTTCTCTCCT CCTCCTCTATTCCCTCCTCCTCTATTCTCTCCTCCTCCTCCCATTCCTCC TCCTTCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCC TCCTGCTTTTCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCTTTTTC TCCTCCTCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCCCTCTCCTC TTCCCTTTCTTCCTTATCCTCTTCTTTCCCCTCCTCCTCCTCTTTCTCCT CTTCCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCCTCCTCTTCTTCCTTC TCCTCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGCCTTCTCCTCCTCCTC CTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCT CCTCCTCCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTCCTTC TCCTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTCCTC CTCCTGTTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTCTCCTCCTCCTT TTCTCTTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTT CTTCTCCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCTTCCCCTCCT CCTCCTTTTCTCTTCCTCCTCCTCCTTCTTTTCCTCCTCTTTCTCCTCTT CCTCCTCTTCCTCCTCCTCCTCTTTCTCCTCCTCCTTCTCCTCCTCCTCC TTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARB1_chr12_124771856_124868864	124839644	T T	TCCCAACA others(813): Show TCCCAACAGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACAG CACACATGGGCCCCGATTTCTCCGCACACTCACCCCAACGGCACACATGG GCCCCGATTTCTCCGCACCCTCACCCCAACAGCACACATGGGCCCCGATT TCTCCGCATCCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGCAC CCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCC AACAGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACA CATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCC CGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTC CGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTC ACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACG GCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATG GGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGAT TTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCA CCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCC CAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCAC ACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCC CCGATTTCTCCGCACCCTCAC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0268 a0001c0003t0002g0268	1	173	0.0058	820	c.127 others(839): Show c.127-21938_127-21937insGTGAGGGTGCGGAGAAATCGGGGCCC ATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCC GTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTG AGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGG AGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGG GGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGT GTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTG GGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGG TGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAA ATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCC CATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGC CGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGT GAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCG GAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGATGCGGAGAAATCG GGGCCCATGTGTGCTGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATG TGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATGTGTGCTGTT GGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGG	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124839644	T T	TCCCAACA others(813): Show TCCCAACAGCACACATGGGCCCCGATTTCTCTGCACCCTCACCCCAACAG CACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACAGCACACATGG GCCCCGATTTCTCCGCACCCTCACCCCAACAGCACACATGGGCCCCGATT TCTCCGCATCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCAC CCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCC AACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACA CATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCC CGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTC CGCATCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTC ACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACG GCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATG GGCCCCGATTTCTCCGCATCCTCACCCCAACGGCACACATGGGCCCCGAT TTCTCCGCACCCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGCA CCCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGCATCCTCACCC CAACAGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCAC ACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCC CCGATTTCTCCGCACCCTCAC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0161 a0001c0001t0003g0161	1	173	0.0058	820	c.127 others(839): Show c.127-21938_127-21937insGTGAGGGTGCGGAGAAATCGGGGCCC ATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCC GTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTG AGGATGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCGG AGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCGGAGAAATCGG GGCCCATGTGTGCCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGT GTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTG GGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGG TGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGATGCGGAGAA ATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCC CATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGC CGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGT GAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCG GAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGATGCGGAGAAATCG GGGCCCATGTGTGCTGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATG TGTGCTGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGTGCTGTT GGGGTGAGGGTGCAGAGAAATCGGGGCCCATGTGTGCTGTTGGG	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SLC6A11_chr3_10811228_10945714	10873417	A A	ATCCTATC others(813): Show ATCCTATCCTATCCTATGGCATGCCATCCTACCCTACCCTATCCTACGCT ATCCTATCCTATCCTATGCCATGCCATGCCATGCCATCCTATCCTATCCT ATCCTATCCTATCCTATCCTATCCTATCCTATGCTATGCTATCCTATCCT ATCCTATCCTATCCTATCCTATCCTATCCTATCCTATGGCATGCTATCCT ACCCTACCCTACCATACCCTACCCTATGCTATCCTATCCTATCCTATGCC ATGCCATCCTATCCTGTCCTATCCTATCCTATCCTATCCTATCCTATCCT ATCCTATGCTATGCTATCCTATCCTATCCTATGCTATCCTATCCTATCCT ATCCTATCCTATCCTATCCTATCCTATCCTATGGCATGCCATCCTACCCT ACCCTATCCTACGCTATCCTATCCTATCCTATGCCATGCCATGCCATGCC ATCCTATCCTATCCTATCCTATCCTATCCTATCCTATCCTATCCTATCCT ATGCTATGCTATCCTATCCTATCCTATGCTATCCTATCCTATCCTATCCT ATCCTATCCTATGGCATGCCATCCTACCCTACCCTATCCTATGCTATCCT ATCCTATCCTATGCCATGCCATGCCATGCCATCCTATCCTATCCTATCCT ATCCTATCCTATCCTATCCTATCCTATCCTATGCTATGCTATCCTATCCT ATCCTATGCTATCCTATCCTATCCTATCCTATCCTATCCTATGGCATGCT ATCCTACCCTACCCTACCATACCCTACCCTATGCTATCCTATCCTATCCT ATGCCATGCCGTCCTATCCTG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0007 a0003c0017t0007	a0003c0017t0007g0342 a0003c0017t0007g0342	1	359	0.0028	820	c.757 others(837): Show c.757-1528_757-1527insGGCATGCCATCCTACCCTACCCTATCCT ACGCTATCCTATCCTATCCTATGCCATGCCATGCCATGCCATCCTATCCT ATCCTATCCTATCCTATCCTATCCTATCCTATCCTATGCTATGCTATCCT ATCCTATCCTATCCTATCCTATCCTATCCTATCCTATCCTATGGCATGCT ATCCTACCCTACCCTACCATACCCTACCCTATGCTATCCTATCCTATCCT ATGCCATGCCATCCTATCCTGTCCTATCCTATCCTATCCTATCCTATCCT ATCCTATCCTATGCTATGCTATCCTATCCTATCCTATGCTATCCTATCCT ATCCTATCCTATCCTATCCTATCCTATCCTATCCTATGGCATGCCATCCT ACCCTACCCTATCCTACGCTATCCTATCCTATCCTATGCCATGCCATGCC ATGCCATCCTATCCTATCCTATCCTATCCTATCCTATCCTATCCTATCCT ATCCTATGCTATGCTATCCTATCCTATCCTATGCTATCCTATCCTATCCT ATCCTATCCTATCCTATGGCATGCCATCCTACCCTACCCTATCCTATGCT ATCCTATCCTATCCTATGCCATGCCATGCCATGCCATCCTATCCTATCCT ATCCTATCCTATCCTATCCTATCCTATCCTATCCTATGCTATGCTATCCT ATCCTATCCTATGCTATCCTATCCTATCCTATCCTATCCTATCCTATGGC ATGCTATCCTACCCTACCCTACCATACCCTACCCTATGCTATCCTATCCT ATCCTATGCCATGCCGTCCTATCCTGTCCTATCCTATCCTAT	SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
SMOC2_chr6_168436184_168672992	168654719	C C	CTCCTGAG others(813): Show CTCCTGAGCTCCAACCAAATGTTAGGAACTCACCAACCCTCTACCTGAGC TCCAACCAAATGTTAGGAACTCACCAACCCTCTACCTGAGCTCCAACCAA ATGTTAGGAACTCACCAACCCTCTACCTGAGCTCCAACCAAATGTTAGGA ACTCACCACCCCTGTACCTGAGCTCCAACCAAATGTTAGGAACTCACCAC CCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACC TGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCA ACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGT TAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTC ACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCT GCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAG CTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCA GATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGG AACTCACCAACCCTGCTCCTGAGCTCCAACCAAATGTTAGGAACTCACCA ACCCTCTACCTGAGCTCCAACCAAATGTTAGGAACTCACCAACCCTCTAC CTGAGCTCCAACCAAATGTTAGGAACTCACCAACCCTCTACCTGAGCTCC AACCAAATGTTAGGAACTCACCACCCCTGTACCTGAGCTCCAACCAAATG TTAGGAACTCACCACCCCTGT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0005 a0001c0002t0014g0005	1	177	0.0056	820	c.128 others(839): Show c.1285+1491_1285+1492insTCCTGAGCTCCAACCAAATGTTAGGA ACTCACCAACCCTCTACCTGAGCTCCAACCAAATGTTAGGAACTCACCAA CCCTCTACCTGAGCTCCAACCAAATGTTAGGAACTCACCAACCCTCTACC TGAGCTCCAACCAAATGTTAGGAACTCACCACCCCTGTACCTGAGCTCCA ACCAAATGTTAGGAACTCACCACCCCTGCACCTGAGCTCCAACCAGATGT TAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTC ACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCT GCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAG CTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCA GATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGG AACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCA ACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCAC CTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCTCCTGAGCTCC AACCAAATGTTAGGAACTCACCAACCCTCTACCTGAGCTCCAACCAAATG TTAGGAACTCACCAACCCTCTACCTGAGCTCCAACCAAATGTTAGGAACT CACCAACCCTCTACCTGAGCTCCAACCAAATGTTAGGAACTCACCACCCC TGTACCTGAGCTCCAACCAAATGTTAGGAACTCACCACCCCTGT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12			chr6	TogoVar
SPPL2B_chr19_2323684_2360095	2348048	C C	CTCATTCG others(813): Show CTCATTCGCTTGATTCCATTCTCTCCCTCCACACACACTCATGCGCTGTC ATTCGCTTGATTCCGTTCTCTCTCCACACACACTCACGCTCTCATTCGCT TGATTCCGTTCTCTCTCCCTCCACACACACTCACGTTCTCATTCGCGTGA TTCCGTTCTCTCTCCACACAGACTCATGCACTCTCATTCGCCTGATTCCA TTCTCTCTCTCCACACACACTCACACGCTGTCATTCGCTTGATTCCGTTC TCTCTCCACACACACTCACGCTCTCATTCGCTTGATTCCGTTCTCTCTCC ACACACACTCACGCTCTCATTCGCTTGATTCCGTTCTCTCTCCACACACA CTCACGCTCTCATTCGCTTGATTCCGTTCTCTCTCTCCACACACACTCAC GCGCTCTCATTCGCTTGATTCCGTTCTCTCCCTCCACACACACTCGTGTT CTCATTCGCTTGATTCCATTCTCTCCCTCCACACACACTCACGCGCTGTC ATTCGCTTGATTCCATTCTCTCTCTCCACACACACTCACGCGCTCTCATT CGCTTGATTCTGTTCTCTCTCTCCACACACACTCACGCGCTGTCATTCGC TTGATTCCGTTCTCTCTCCACACACACTCACGCTCTCATTCGCTTGATTC CGTTCTCTCTCTCTCCACACACACTCACGCGCTCTCATTCGCTTGATTCC GTTCTCTCCCTCCACACACACTCGCGTTCTCATTCGCTTGATTCCATTCT CTCCCTCCACACACACTCGCGTTCTCATTCGCTTGATTCCATTCTCTCCC TCCACACACACTCACGCGCTG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	410	0.0024	820	c.135 others(839): Show c.1354+2835_1354+2836insCTCCACACACACTCACGTTCTCATTC GCGTGATTCCGTTCTCTCTCCACACAGACTCATGCACTCTCATTCGCCTG ATTCCATTCTCTCTCTCCACACACACTCACACGCTGTCATTCGCTTGATT CCGTTCTCTCTCCACACACACTCACGCTCTCATTCGCTTGATTCCGTTCT CTCTCCACACACACTCACGCTCTCATTCGCTTGATTCCGTTCTCTCTCCA CACACACTCACGCTCTCATTCGCTTGATTCCGTTCTCTCTCTCCACACAC ACTCACGCGCTCTCATTCGCTTGATTCCGTTCTCTCCCTCCACACACACT CGTGTTCTCATTCGCTTGATTCCATTCTCTCCCTCCACACACACTCACGC GCTGTCATTCGCTTGATTCCATTCTCTCTCTCCACACACACTCACGCGCT CTCATTCGCTTGATTCTGTTCTCTCTCTCCACACACACTCACGCGCTGTC ATTCGCTTGATTCCGTTCTCTCTCCACACACACTCACGCTCTCATTCGCT TGATTCCGTTCTCTCTCTCTCCACACACACTCACGCGCTCTCATTCGCTT GATTCCGTTCTCTCCCTCCACACACACTCGCGTTCTCATTCGCTTGATTC CATTCTCTCCCTCCACACACACTCGCGTTCTCATTCGCTTGATTCCATTC TCTCCCTCCACACACACTCACGCGCTGTCATTCGCTTGATTCCATTCTCT CCCTCCACACACACTCATGCGCTGTCATTCGCTTGATTCCGTTCTCTCTC CACACACACTCACGCTCTCATTCGCTTGATTCCGTTCTCTCTCC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(813): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAG GAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGA GGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGAAAGGAAGGAGGGAGGGGGGAGGAAAGGAAGGAGGGAGGGAGGG AGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAA GGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGG AGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAA GGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGG AGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAG GGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGA AAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	3	0.3333	820	c.597 others(837): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTT CCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCT TCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCC TTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCT CCCTCCCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCC CTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTC CCTCCCTCTTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCT TCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTT CCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTT TCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCC CTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCT CCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
SYNDIG1_chr20_24464629_24671616	24530039	A A	AATACCCC others(813): Show AATACCCCTGGTGATGGTTTCAGTGGTGGAGATGATGACAGTGATGGTGG TGGTGATGGTAGTACTCCCGGTGGTGGTGTCAGTGGTGGGGATGGTGATG GTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGT GTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGATGGTAGTATTCC CGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTAGTA TTCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGACAGT AGTACTCCCAGTGATGGTGTCATGGTGGAGATGGTGATGGTGGTGGTGAT GGTAGTACTCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGG TGACGGTAGTACTCCTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTG GTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTAGT ATTCCCAGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGG TGTCAGTGGTGGGGATGGTGATGGTGGTATTCCCAGTGATAGTGTCAGTG GTGGGGATGGTGATGGTGGTGGCGATGGTGGTATTCCTGGTGATGGTGTC AGTGGTGGGGAGAGTGGTGGTGATGATGGTAGTACCCCTGGTGGTGGTGA TTATGAAAATGGCTATGTCAGTGATGCTGATTGTGATGGTGACTGAAGTT CTGGAGGTGATGGGGTAATGAAGGTAGTGATGGCTATGGTGGTGATGGTG GAGATAATGGAGATGGTGGTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02647.hp2 HG02895.hp1 others(2): Show HG02055.hp2 HG02647.hp2 HG02895.hp1 HG02897.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 others(2): Show a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0029 a0001c0002t0001g0156	5	125	0.0400	820	c.-78 others(839): Show c.-78-12979_-78-12978insACCCCTGGTGATGGTTTCAGTGGTGG AGATGATGACAGTGATGGTGGTGGTGATGGTAGTACTCCCGGTGGTGGTG TCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGAT GGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGG TGATGGTGATGGTAGTATTCCCGGTGATGGTGTCAGTGGTGGGGATGGTG ATGGTGGTGGTGATGGTAGTATTCCCGGTGATGGTGTCAGTGGTGGGGAT GGTGATGGTGGTGGTGACAGTAGTACTCCCAGTGATGGTGTCATGGTGGA GATGGTGATGGTGGTGGTGATGGTAGTACTCCCGGTGATGGTGTCAGTGG TGGGGATGGTGATGGTGGTGGTGACGGTAGTACTCCTGGTGATGGTGTCA GTGGTGGGGATGGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGATGGT GATGGTGGTGGTGATGGTAGTATTCCCAGTGATGGTGTCAGTGGTGGGGA TGGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTA TTCCCAGTGATAGTGTCAGTGGTGGGGATGGTGATGGTGGTGGCGATGGT GGTATTCCTGGTGATGGTGTCAGTGGTGGGGAGAGTGGTGGTGATGATGG TAGTACCCCTGGTGGTGGTGATTATGAAAATGGCTATGTCAGTGATGCTG ATTGTGATGGTGACTGAAGTTCTGGAGGTGATGGGGTAATGAAGGTAGTG ATGGCTATGGTGGTGATGGTGGAGATAATGGAGATGGTGGTCAT	SYNDIG1	ENSG00000101463.6	transcript	ENST00000376862.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
THEG_chr19_356747_381026	377527	T T	TACCCCCA others(813): Show TACCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCT CTGTACCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCT CCCCCTCTGTACCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCA GCCTCTCCCCCTCTGTACCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCC CACCCAGCCTCTCCCCCTCTGTACCCCCACCCAGCCTCTCCCCCCCCGTG CCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCT GTACCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCC TCTGTACCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTC TCCCCCTCTGTACCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGC CTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCA GCCTCTCCCCCCCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCA CCCAGCCTCTCCCCCTCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0010 a0004c0005t0010	a0004c0005t0010g0011 a0004c0005t0010g0011	1	368	0.0027	820	c.-15 others(831): Show c.-1558_-1557insCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGGCACAGGGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGGTACAGAGGGGGAGAGGCTGGGTGGG GGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGCACAGAGGGGGAGAGGCTGGGTGGGGGTACAGAGGGGGAGAGGCTG GGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGTACAGAGGGGGAGAGG CTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAG AGGCTGGGTGGGGGTACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGGTACAGAGGGGGAGAGGCTGGGTGGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGGTACAGAGGGGGAGAGGCTGGGTGG GGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGG TGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGTACAGAGGGGGAGAGGCT GGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGT	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1502		chr19	TogoVar
THOP1_chr19_2780503_2820807	2818308	T T	TCAGAGCA others(813): Show TCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTG ACTAAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGG TGACTAAGAACAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTG ACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGA GCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAA GGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGG TGACTAAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAG GGTGACTAAGAACAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGG TGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATGACTAAGGTCA GAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATGAC TAAGGTCAGAGCAGGTGACAACGGTGACTAAGAACAGAGCAGGTGACAAG GGTGACTAAGAACAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGG TGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATAACTAAGGTC AGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGAC TAAGGTCAGAGCAGGTGACCAAGGATGACTAAGAACAGAGCAGGTGACCA AGGATAACTAAGGTCAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCA GGTGACAAGGGTGACTAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG03195.hp1 HG01891.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0035 a0001c0001t0013g0035	2	362	0.0055	820	c.50 others(831): Show c.5032_*5033insCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAG CAGGTGACAAGGGTGACTAAGAGCAGGTGACCAAGGATAACTAAGGTCAG AGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATGACTA AGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGG ATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTG ACCAAGGATAACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAG AGCAGGTGACAAGGGTGACTAAGAGCAGGTGACCAAGGATAACTAAGGTC AGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATGAC TAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAA GGATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAG GTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAACGGTGACTAAGAAC AGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATGAC TAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACCA AGGATAACTAAGGTCAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCA GGTGACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGAA CAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACCAAGGATA ACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAA	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding		2502		chr19	TogoVar
TPPP_chr5_654862_698352	689512	G G	GGACACAG others(813): Show GGACACAGAGTCTGCCCGGAGGAACGCACGCACCAATCCCTTCCCTGAGC CGCGCTGAACGGGAAAGGGCTCCAGGTGGCCTTAACTGCTGGGCTTAAAG AAAGGTTAAGAACCTCCCTTCCCTTCCAGAACCTCACTTTTAAATGACGT CAGCCTGACTGGCGTCCTCTGACGAGGCGCTCACCCTTCCACGACGGAGG GGAGAAGCCCGGCTTTCTGAACGGATGAGGCTGCAGAAGGCAGTTGGTAT GATGCAAAGACAGAAAGCTGCTGTCTGCTTCCACTCTTTTGAAAGATTTT TCATATTTCTTCCCAAAAGAAGTCATGCATTTGGACATTTAGACATTAAA TTACAATTCGCAATTCAGTTGTGCTTGCACAGTTAAAGGAGAAACATGGA ACCCAGAACAGTCTTCATTCGCGTATCAGGAAACAAGATTTAGGGACAGC TGATGTTTCTCTTTATTCTTTTTCTGAGACCCACGTGCCACTTTCCTGCA GGGCGCTGCCCTTCCCCAGGTGTGATTCCAGGGGGCTGCAGACCACAGAA CCCGCCCCTCTCCTGGATCCAGCAGGGCCAATCAAAGCCATTCCCAGTCA AGGCCCTGCAGCACTGGGGAGGGGCTTCCCCACCGAGGAGGTGCTGCTGA GCTGATGTGTCCTGGGGGCCCTGGCGGGGAGATGGCCTGGAGTGAAATGC CCAGGATGGGGAAGCCTGGGTGGAGGAACCCTGGGGGGGATTGCCCTGGG GAGGGGGAAATCCCCTGGGGGGGAAGCGCTGGGGAGGGGGATTCCCCGGG GAAGAGGATGCCCTGGGTGGA	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0275 a0001c0001t0002g0275	1	97	0.0103	820	c.-5+ others(835): Show c.-5+3765_-5+3766insTCCACCCAGGGCATCCTCTTCCCCGGGGAA TCCCCCTCCCCAGCGCTTCCCCCCCAGGGGATTTCCCCCTCCCCAGGGCA ATCCCCCCCAGGGTTCCTCCACCCAGGCTTCCCCATCCTGGGCATTTCAC TCCAGGCCATCTCCCCGCCAGGGCCCCCAGGACACATCAGCTCAGCAGCA CCTCCTCGGTGGGGAAGCCCCTCCCCAGTGCTGCAGGGCCTTGACTGGGA ATGGCTTTGATTGGCCCTGCTGGATCCAGGAGAGGGGCGGGTTCTGTGGT CTGCAGCCCCCTGGAATCACACCTGGGGAAGGGCAGCGCCCTGCAGGAAA GTGGCACGTGGGTCTCAGAAAAAGAATAAAGAGAAACATCAGCTGTCCCT AAATCTTGTTTCCTGATACGCGAATGAAGACTGTTCTGGGTTCCATGTTT CTCCTTTAACTGTGCAAGCACAACTGAATTGCGAATTGTAATTTAATGTC TAAATGTCCAAATGCATGACTTCTTTTGGGAAGAAATATGAAAAATCTTT CAAAAGAGTGGAAGCAGACAGCAGCTTTCTGTCTTTGCATCATACCAACT GCCTTCTGCAGCCTCATCCGTTCAGAAAGCCGGGCTTCTCCCCTCCGTCG TGGAAGGGTGAGCGCCTCGTCAGAGGACGCCAGTCAGGCTGACGTCATTT AAAAGTGAGGTTCTGGAAGGGAAGGGAGGTTCTTAACCTTTCTTTAAGCC CAGCAGTTAAGGCCACCTGGAGCCCTTTCCCGTTCAGCGCGGCTCAGGGA AGGGATTGGTGCGTGCGTTCCTCCGGGCAGACTCTGTGTC	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	1/3			chr5	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(813): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATAC TATTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATATACTATATCATCAT ATGATGATATGATATACTATATCATCATATGATGATATGATATACTATAT CATCATATGATGATATGATATACTATATCATCATATGATGATATGATATA CTATATCATCATATGATGATATGATATACTATATCATCATATGATGATAT GATATACTATATCATCATATGATGATATGATATACTATATCATCATATGA TGATATGATATACTATATCATCATATGATGATATGATATACTATATCATC ATATGATGATATGATATACTATATCATCATATGATGATATGATATACTAT ATCATCATATGATGATATGATATACTATATCATCATATGATGATATGATA TACTATATCATCATATGATGATATGATATACTATATCATCATATGATGAT ATGATATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATATGATATACTATATCATCATATGATGATATGATATACTATATCA TCATATGATGATATGATATAC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0172 a0001c0001t0062g0172	1	98	0.0102	820	c.41- others(837): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATAC TATTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATATACTATATCATCAT ATGATGATATGATATACTATATCATCATATGATGATATGATATACTATAT CATCATATGATGATATGATATACTATATCATCATATGATGATATGATATA CTATATCATCATATGATGATATGATATACTATATCATCATATGATGATAT GATATACTATATCATCATATGATGATATGATATACTATATCATCATATGA TGATATGATATACTATATCATCATATGATGATATGATATACTATATCATC ATATGATGATATGATATACTATATCATCATATGATGATATGATATACTAT ATCATCATATGATGATATGATATACTATATCATCATATGATGATATGATA TACTATATCATCATATGATGATATGATATACTATATCATCATATGATGAT ATGATATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATATGATATACTATATCATCATATGATGATATGATATACTATATCA TCATATGATGATATGATATACTATATCATCATATGATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSNARE1_chr8_142207080_142408182	142242243	T T	TGCCGTAT others(813): Show TGCCGTATACAACAATCAACTCAAAATGGATGGAAGACCGACATGTGAGA CCTAAAACTCTAAAACTACGATCTCCATCTCACGCCGTATACAACAATCA ACTCAAAATGGATGGAAGACTGACATGTGAGACCTAAAACTCTAAAACTA AGATCTCCATCTCATGCCATATACAACAATCAACTCAAAATGGATGGAAG ACTGACATGTGAGACCTAAAACTCTAAAACTATGATCTCCATCTCACGCC ATATACAACAATCAACTCAAAATGGATGGAAGACTGACATGTGAGACCTA AAACTCTAAAACTATGATCTCCATCTCACGCCATATACAACAATCAACTC AAAATGGATGGAAGACCGACATGTGAGATCTAAAACTCTAAAACTACAAT CTCCATCTCACGCCGTATACAACAATCAACTCAAAATGGATGGAAGACCG ACATGTGAGACCTAAAACTCTAAAACTACGATCTCCATCTCACGCCGTAT ACAACAATCAACTCAAAATGGATGGAAGACCGACATGTGAGACCTAAAAC TCTAAAACTACGATCTCCATCTCATGCCATATACAACAATCAACTCAAAA TGGATGGAAGACCGACATGTGAGACCTAAAACTCTAAAACTACGATCTCC ATCTCATGCCGTATACAACAATCAACTCAAAATGGATGGAAGACCGACAT GTGAGACCTAAAACTCTAAAACTACAATCTCCATCTCATGCCGTATACAA CAATCAACTCAAAATGGATGGAAGACTGACATGTGAGACCTAAAACTCTA AAACTATGATCTCCATCTCAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0179 a0002c0002t0001g0179	1	82	0.0122	820	c.144 others(841): Show c.1447-12665_1447-12664insGTGAGATGGAGATCATAGTTTTAG AGTTTTAGGTCTCACATGTCAGTCTTCCATCCATTTTGAGTTGATTGTTG TATACGGCATGAGATGGAGATTGTAGTTTTAGAGTTTTAGGTCTCACATG TCGGTCTTCCATCCATTTTGAGTTGATTGTTGTATACGGCATGAGATGGA GATCGTAGTTTTAGAGTTTTAGGTCTCACATGTCGGTCTTCCATCCATTT TGAGTTGATTGTTGTATATGGCATGAGATGGAGATCGTAGTTTTAGAGTT TTAGGTCTCACATGTCGGTCTTCCATCCATTTTGAGTTGATTGTTGTATA CGGCGTGAGATGGAGATCGTAGTTTTAGAGTTTTAGGTCTCACATGTCGG TCTTCCATCCATTTTGAGTTGATTGTTGTATACGGCGTGAGATGGAGATT GTAGTTTTAGAGTTTTAGATCTCACATGTCGGTCTTCCATCCATTTTGAG TTGATTGTTGTATATGGCGTGAGATGGAGATCATAGTTTTAGAGTTTTAG GTCTCACATGTCAGTCTTCCATCCATTTTGAGTTGATTGTTGTATATGGC GTGAGATGGAGATCATAGTTTTAGAGTTTTAGGTCTCACATGTCAGTCTT CCATCCATTTTGAGTTGATTGTTGTATATGGCATGAGATGGAGATCTTAG TTTTAGAGTTTTAGGTCTCACATGTCAGTCTTCCATCCATTTTGAGTTGA TTGTTGTATACGGCGTGAGATGGAGATCGTAGTTTTAGAGTTTTAGGTCT CACATGTCGGTCTTCCATCCATTTTGAGTTGATTGTTGTATACGGC	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	12/13			chr8	TogoVar
TTLL8_chr22_50013575_50063298	50029267	A A	ATCCTGAA others(813): Show ATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGA AGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCC ACACACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACC CTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAA AGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCC ATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACAC CGTCCTAAAGACCCCCACACACCCTCGTAAAGACCCCATCACACCATCCT GAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACC CCACACACACTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACAC ACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCG TAAAGACCCCATCACACCATCCTGAAGACCCCACACACACTCGTAAAGAC CCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCA CACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCATC CTGAAGACCCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGA CCCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCCAC ACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACACT CGTAAAGACCCCATCACACCG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0093 a0003c0003t0001g0093	1	94	0.0106	820	c.225 others(839): Show c.2251+1162_2251+1163insCGGTGTGATGGGGTCTTTACGAGTGT GTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGG GGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTC AGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGATGG TGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATG GGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTT TACGAGTGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGG GTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTG GGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGTCT TCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGAT GGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGGTCTTTAGGACGGTGTG ATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGT CTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACG AGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGT GTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGT CTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGG ATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGA	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
WDR25_chr14_100371485_100535303	100526932	A A	ATCACCAC others(813): Show ATCACCACCACCACCACCATTATCACCAGGACCAGCACCATCAGCATCAC TATCTCTATACCCACCACCACCACCACTGTCATCATTGTCACTACTACCA CTCCTGTCATCACCACCACCACCACCATTATCACCAGGACCAGCACCATC AGCATCACTACCACCACCAGTGTCATCACCGCCACCATCACCAGTACCAC CATCAGCATCACTATCTCTATACCCACCACCACCACTGTCATCATTGTCA CTACCACCACTACTATCGTCACCACCATCACCACTACCACCACCATTATC ACCAGCACCAGCACCATCAGCATCACTACCACCACCAGTGTCATCACCGC CACCACCACCAGTACCACCATCAGCATCACTATCTCTATACCCACCACCT CCACTGTCATCATTGTCACTACCACCACTACTGTCATCATCACCATTATC ACCAGCACCAGCACCATCAGCATCACTATCTCTATACCCACCACCACCAC AGTCATCATTGTCACTACTACCACTCCTGTCATCACCAGCACCACCACCA TTATCACCAGCACCACCGCCATTATCACCAGCACCACTGCCATCAGCATC ACCATCACCATCTTTGTACTCATCACCATCATCGTCACCACCGCGCCACC ACCATCACTGCCACCACTATTATCACTAGCACTACCACCATCAGCATCAG CATCACCATCTGTATACTCACCACCATTACCATCATCGTCATCACTGCCA CCACCATCACCACTGTCCTCTTTATCTCCAGCACCACCATCATCGTCACT GTCACCATACCACTCTCATCT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0095 a0001c0003t0001g0095	1	21	0.0476	820	c.127 others(837): Show c.1272+902_1272+903insCACCACCATTATCACCAGGACCAGCACC ATCAGCATCACTATCTCTATACCCACCACCACCACCACTGTCATCATTGT CACTACTACCACTCCTGTCATCACCACCACCACCACCATTATCACCAGGA CCAGCACCATCAGCATCACTACCACCACCAGTGTCATCACCGCCACCATC ACCAGTACCACCATCAGCATCACTATCTCTATACCCACCACCACCACTGT CATCATTGTCACTACCACCACTACTATCGTCACCACCATCACCACTACCA CCACCATTATCACCAGCACCAGCACCATCAGCATCACTACCACCACCAGT GTCATCACCGCCACCACCACCAGTACCACCATCAGCATCACTATCTCTAT ACCCACCACCTCCACTGTCATCATTGTCACTACCACCACTACTGTCATCA TCACCATTATCACCAGCACCAGCACCATCAGCATCACTATCTCTATACCC ACCACCACCACAGTCATCATTGTCACTACTACCACTCCTGTCATCACCAG CACCACCACCATTATCACCAGCACCACCGCCATTATCACCAGCACCACTG CCATCAGCATCACCATCACCATCTTTGTACTCATCACCATCATCGTCACC ACCGCGCCACCACCATCACTGCCACCACTATTATCACTAGCACTACCACC ATCAGCATCAGCATCACCATCTGTATACTCACCACCATTACCATCATCGT CATCACTGCCACCACCATCACCACTGTCCTCTTTATCTCCAGCACCACCA TCATCGTCACTGTCACCATACCACTCTCATCTTCACCACCAC	WDR25	ENSG00000176473.14	transcript	ENST00000402312.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(813): Show TCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCC CTTCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCT TCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTC CCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCC CTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTT CCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCT TCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCC CCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCTCCCTTCCCCCCT TTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTT CCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTC CCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	100	0.0100	820	c.-10 others(837): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTTCCCCCTTCCCCCT TCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCCTTCCCCC CTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCC CCCTTCCCTCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTT CCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCC CCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTC CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTT CCCCCTTCTCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCC CCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCC TTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ZDHHC11B_chr5_705355_789729	781571	G G	GGACACAG others(813): Show GGACACAGAGTCTGCCCGGAGGAACGCACGCACCAATCCCTTCCCTGAGC CGCGCTGAACGGGAAAGGGCTCCAGGTGGCCTTAACTGCTGGGCTTAAAG AAAGGTTAAGAACCTCCCTTCCCTTCCAGAACCTCACTTTTAAATGACGT CAGCCTGACTGGCGTCCTCTGACGAGGCGCTCACCCTTCCACGACGGAGG GGAGAAGCCCGGCTTTCTGAACGGATGAGGCTGCAGAAGGCAGTTGGTAT GATGCAAAGACAGAAAGCTGCTGTCTGCTTCACTCTTTTGAAAGATTTTT CATATTTCTTCCCCAAAAGAAGTCATGCATTTGGACATTTAGACATTAAA TTACAATTCGCAATTCAGTTGTGCTTGCACAGTTAAAGGAGAAACATGGA ACCCAGAACAGTCTTCATTCGCGTATCAGGAAACAAGATTTAGGGACAGC TGATGTTTCTCTTTATTCTTTTTCTGAGACCCACGTGCCACTTTCCTGCA GGGCGCTGCCCTTCCCCAGGTGTGATTCCAGGGGGCTGCAGACCACAGAA CCCGCCCCTCTCCTGGATCCAGCAGGCCAATCAAAGCCATTCCCAGTCAA GGCCCTGCAGCACTGGGGAGGGGCTTCCCCACCGAGGAGGTGCTGCTGAG CTGATGTGTCCTGGGGGCCCTGGCGGGGAGATGGCCTGGAGTGAAATGCC CAGGATGGGGAAGCCCTGGGTGGAGGAACCCTGGGGGGGATTGCCCTGGG GAGGGGGAAATCCCCTGGGGGGGAAGCGCTGGGGAGGGGGATTCCCCGGG GAAGAGGATGCCCTGGGTGGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0036 a0001c0004t0002g0036	1	201	0.0050	820	c.-23 others(839): Show c.-230+3096_-230+3097insTCCACCCAGGGCATCCTCTTCCCCGG GGAATCCCCCTCCCCAGCGCTTCCCCCCCAGGGGATTTCCCCCTCCCCAG GGCAATCCCCCCCAGGGTTCCTCCACCCAGGGCTTCCCCATCCTGGGCAT TTCACTCCAGGCCATCTCCCCGCCAGGGCCCCCAGGACACATCAGCTCAG CAGCACCTCCTCGGTGGGGAAGCCCCTCCCCAGTGCTGCAGGGCCTTGAC TGGGAATGGCTTTGATTGGCCTGCTGGATCCAGGAGAGGGGCGGGTTCTG TGGTCTGCAGCCCCCTGGAATCACACCTGGGGAAGGGCAGCGCCCTGCAG GAAAGTGGCACGTGGGTCTCAGAAAAAGAATAAAGAGAAACATCAGCTGT CCCTAAATCTTGTTTCCTGATACGCGAATGAAGACTGTTCTGGGTTCCAT GTTTCTCCTTTAACTGTGCAAGCACAACTGAATTGCGAATTGTAATTTAA TGTCTAAATGTCCAAATGCATGACTTCTTTTGGGGAAGAAATATGAAAAA TCTTTCAAAAGAGTGAAGCAGACAGCAGCTTTCTGTCTTTGCATCATACC AACTGCCTTCTGCAGCCTCATCCGTTCAGAAAGCCGGGCTTCTCCCCTCC GTCGTGGAAGGGTGAGCGCCTCGTCAGAGGACGCCAGTCAGGCTGACGTC ATTTAAAAGTGAGGTTCTGGAAGGGAAGGGAGGTTCTTAACCTTTCTTTA AGCCCAGCAGTTAAGGCCACCTGGAGCCCTTTCCCGTTCAGCGCGGCTCA GGGAAGGGATTGGTGCGTGCGTTCCTCCGGGCAGACTCTGTGTC	ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	1/13			chr5	TogoVar
ZNF554_chr19_2814868_2841735	2818308	T T	TCAGAGCA others(813): Show TCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTG ACTAAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGG TGACTAAGAACAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTG ACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGA GCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAA GGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGG TGACTAAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAG GGTGACTAAGAACAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGG TGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATGACTAAGGTCA GAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATGAC TAAGGTCAGAGCAGGTGACAACGGTGACTAAGAACAGAGCAGGTGACAAG GGTGACTAAGAACAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGG TGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATAACTAAGGTC AGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGAC TAAGGTCAGAGCAGGTGACCAAGGATGACTAAGAACAGAGCAGGTGACCA AGGATAACTAAGGTCAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCA GGTGACAAGGGTGACTAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG03195.hp1 HG01891.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0003 a0001c0008t0010 a0001c0001t0003 a0001c0008t0010	a0001c0001t0003g0101 a0001c0008t0010g0100 a0001c0001t0003g0101 a0001c0008t0010g0100	2	403	0.0050	820	c.-17 others(831): Show c.-1764_-1763insCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAG CAGGTGACAAGGGTGACTAAGAGCAGGTGACCAAGGATAACTAAGGTCAG AGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATGACTA AGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGG ATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTG ACCAAGGATAACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAG AGCAGGTGACAAGGGTGACTAAGAGCAGGTGACCAAGGATAACTAAGGTC AGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATGAC TAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAA GGATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAG GTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAACGGTGACTAAGAAC AGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATGAC TAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACCA AGGATAACTAAGGTCAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCA GGTGACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGAA CAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACCAAGGATA ACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAA	ZNF554	ENSG00000172006.12	transcript	ENST00000317243.10	protein_coding		1559		chr19	TogoVar
ADARB2_chr10_1172313_1742525	1592579	A A	AAAGCCAC others(814): Show AAAGCCACCCTCCATAGGTCTCCTCTCTGGCATGGTCCCCTCTGTCACCC AGCTTCCCTCACCCAAGCCACCCTCCATAGGTCTCTTCTCTGGCATGGTC CCCTCTGTCACCCAGCTTCCCTCACCCAAGCCACCCTCCATAGGTCTCCC CTCTGGCATGGTCTCCTCTGTCACCCAGCTCCCCTTCGTCCAAGCCACCC TCCACAGGTCTCCTCTCTGGCATGGTCCCCTCTGTCACCCAGCTTCCCTC ACCCAAGCCACCCTCCATAGGTCTCCTCTCTGGCATGGTCCCCTCTGTCA CCCAGCTTCCCTTGCCCAAGCCACCCTGCATAGGTCTCCTCTCTGGCATG GTCCCCTCTGTCACTCAGCTTCCCTCACCCAAGCCACCCTCCATAGGTCT CCTCTCTGGCATGGTCCCCTCTGTCACCCAGCTCCCTTCACCCAAGCCAC CCTCCATAGGTCTCCTCTCTGGCATGGTCCCCTCTGTCACCCAGCTTCCC TCGCCCAAGCCACGCTCCATAGGTCTCCTCTCTGGCATGGTCCCCTCTGT CACTCAGCTTCCCTCACCCAAGCCACCCTCCATAGGTCTCCTCTCTGGCA TGGTCCCCTCTGTCACCCAGCTCCCTTCACCCAAGCCACCCTCCATAGGT CTCCTCTCTGGCATGGTCCCCTCTGTCACCCAGCTTCCCTCGCCCAAGCC ACGCTCCATAGGTCTCCTCTCTGGCATGGTCTCCTCTGTCACCCAGCTCC CCTTCGTCCAAGCCACCCTCCATAGGTCTCCTCTCTGGCATGGTCCCCTC TGTCACCCAGCTACCCTCACCC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	65	0.0154	821	c.100 others(842): Show c.100+144471_100+144472insGGGTGAGGGTAGCTGGGTGACAGA GGGGACCATGCCAGAGAGGAGACCTATGGAGGGTGGCTTGGACGAAGGGG AGCTGGGTGACAGAGGAGACCATGCCAGAGAGGAGACCTATGGAGCGTGG CTTGGGCGAGGGAAGCTGGGTGACAGAGGGGACCATGCCAGAGAGGAGAC CTATGGAGGGTGGCTTGGGTGAAGGGAGCTGGGTGACAGAGGGGACCATG CCAGAGAGGAGACCTATGGAGGGTGGCTTGGGTGAGGGAAGCTGAGTGAC AGAGGGGACCATGCCAGAGAGGAGACCTATGGAGCGTGGCTTGGGCGAGG GAAGCTGGGTGACAGAGGGGACCATGCCAGAGAGGAGACCTATGGAGGGT GGCTTGGGTGAAGGGAGCTGGGTGACAGAGGGGACCATGCCAGAGAGGAG ACCTATGGAGGGTGGCTTGGGTGAGGGAAGCTGAGTGACAGAGGGGACCA TGCCAGAGAGGAGACCTATGCAGGGTGGCTTGGGCAAGGGAAGCTGGGTG ACAGAGGGGACCATGCCAGAGAGGAGACCTATGGAGGGTGGCTTGGGTGA GGGAAGCTGGGTGACAGAGGGGACCATGCCAGAGAGGAGACCTGTGGAGG GTGGCTTGGACGAAGGGGAGCTGGGTGACAGAGGAGACCATGCCAGAGGG GAGACCTATGGAGGGTGGCTTGGGTGAGGGAAGCTGGGTGACAGAGGGGA CCATGCCAGAGAAGAGACCTATGGAGGGTGGCTTGGGTGAGGGAAGCTGG GTGACAGAGGGGACCATGCCAGAGAGGAGACCTATGGAGGGTGGCTT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ANO3_chr11_26327130_26668289	26396991	C C	CAGACTTC others(814): Show CAGACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAA TGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAG ATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACA ACAGGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGG TGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCT CAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGG GTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACA CGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACC CAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACA CCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTA GGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGA ACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAA TGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGG TGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCT AGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATA TGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAA TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp1 HG02572.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0003 a0001c0012t0007 a0001c0001t0003 a0001c0012t0007	a0001c0001t0003g0132 a0001c0012t0007g0153 a0001c0001t0003g0132 a0001c0012t0007g0153	2	169	0.0118	821	c.47- others(838): Show c.47-44924_47-44923insCTTCTCAAAAGAAGACATTTATGCAGCC AAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCA AATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCA TTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGA ACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAA GTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACC CAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGC TATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGC AAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGA AAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGAT GAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCT CAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCA TAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATC ACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTG GGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGC ATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACC CTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAGA	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ATP10A_chr15_25673712_25868327	25758645	A A	ACTCATTC others(814): Show ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCGATCACCTGCTCCACCCTAACTCATTCCGATCACCT GCTCCACCCTAACTCATTCGATCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCAT TCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTA ACTCATTCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCA CCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCT GCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGA TCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCT AACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACC CTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGC TCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCT GCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGA CCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCT CATTCCGATCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0268 a0004c0004t0001g0268	1	284	0.0035	821	c.654 others(840): Show c.654+22373_654+22374insGGTGGAGCAGGTGATCGGAATGAGGG TGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAG TTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGT GGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTG GAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGG TGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAG TTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGT GGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGA GCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGAATGAGTTAGG GTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGA GTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCG GAATGAGTTAGGGTGGAGCAGGTGATCGAATGAGTTAGGGTGGAGCAGGT GATCGGAATGAGTTAGGGTGGAGCAGGTGATCGAATGAGTTAGGGTGGAG CAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP9B_chr18_79064394_79383283	79200717	T T	TGGAGGTG others(814): Show TGGAGGTGGGAACTGTCAGGGTCAGAGCAGAGGCGGAGGTGGGAACGTTG GGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTG GAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGG GGTCAGAGCAGAGGTGGAGGTGGGAACGTTGGGGTCAGAGCAGAGGTGGA GGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACGTTGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACGTTGGGGTCAG AGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG GACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGG ACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGC AGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAA CTGTCGGGGTCAGAGCAGAGGC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0112 a0001c0003t0003g0112	1	251	0.0040	821	c.955 others(838): Show c.955-6211_955-6210insAACTGTCAGGGTCAGAGCAGAGGCGGAG GTGGGAACGTTGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACGTTGGGGTCAG AGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGAACGTTGGGGTCAGAGCAGAGGTGGAGGTGGGG ACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGC AGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAA CGTTGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAG AGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACT GTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGA GGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTG TCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAG GTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGT CGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGG TGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(814): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTC TCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0320 a0001c0001t0039g0320	1	38	0.0263	821	c.248 others(838): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTT TTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
COL4A1_chr13_110143963_110312157	110255884	A A	AAGGGGGA others(814): Show AAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGG GGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGG GAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGA AGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGGAAGGCAGGAAG GGAGGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAA GGCAGGAAGGGAGGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG AGGGGGGAAGGCAGGAAGGGAG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0066 a0001c0066	a0001c0066t0001 a0001c0066t0001	a0001c0066t0001g0149 a0001c0066t0001g0149	1	216	0.0046	821	c.85- others(838): Show c.85-13151_85-13150insCTCCCTTCCTGCCTTCCCCCCTCCCTTC CTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCCTCCCTTCCTGCCTTCCCC CTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCCTCCCTTCCT GCCTTCCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCC TTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCC CTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCC CCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(814): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGGAG GAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGTGGGAGGGGGAG GGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGA GGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGGAGGGG GAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG GAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGG GGAGGGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG GAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGG GGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGGGAGGGGAGGGGGG GAGGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGGAGGG GGAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAA GGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGGG AAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGGAGA CAGAGGGGAGGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0198 a0001c0001t0010g0198	1	97	0.0103	821	c.923 others(840): Show c.923-33074_923-33073insCCTCCCCTCCCCCTCCCCTCTGTCTC CCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCC CCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTCCCCCT CCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCC CCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCCCTCCCCTC CCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCC CCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCACTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCC CTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DPEP1_chr16_89608642_89643433	89635050	C C	CCCTTTCC others(814): Show CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTC CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCC TTCCTTCCCTTTCCCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	231	0.0043	821	c.105 others(836): Show c.105-858_105-857insCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCC CTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCC CTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCCTTCC TTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCCTTCCTTC CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10			chr16	TogoVar

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