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
EHMT1_chr9_137614005_137841127	137780276	T T	TGCTGGGA others(609): Show TGCTGGGATGTGTGGTGATGACGCTGAGATGTGTGGTGATGACGGCATCA CTGAGATGTGTGGTGATGACGCTGAGACGTGTGGTGATGACGCTGAGACG TGTGATGACGCTGGGATGTGTGGTGATGACGCTGGGATGTGTGGTGATGA CGCTGAGATGTGTGGTGATGACGGCATCACTGAGATGTGTGGTGATGACG CTGAGACGTGTGGTGATGACGCTGAGACGTGTGGTGATGACGCTGGGATG TGTGGTGATGACGCTGAGATGTGTGGTGATGGCATCACTGAGATGTGTGG TGATGACGCTGGGATGTGTGGTGATGACGCTGGGATGTGTGGTGATGACG CTGAGATGTGTGGTGATGACGGCATCTCACTGAGATGTGTGGTGATGACG CCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGATGACGCCGGTATG TGTGGTGATGACACTGGGATGTGTGGTGATGACGCTGGGATGTGTGGTGA TGACGCTGAGATGTGTGGTGATGACGGCATCTCACTGAGATGTGTGGTGA TGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGATGACGCCG GGATGTGTGGTGATGAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	162	0.0062	616	c.227 others(634): Show c.2275+654_2275+1269dupAGACGTGTGATGACGCTGGGATGTGTG GTGATGACGCTGGGATGTGTGGTGATGACGCTGAGATGTGTGGTGATGAC GGCATCACTGAGATGTGTGGTGATGACGCTGAGACGTGTGGTGATGACGC TGAGACGTGTGGTGATGACGCTGGGATGTGTGGTGATGACGCTGAGATGT GTGGTGATGGCATCACTGAGATGTGTGGTGATGACGCTGGGATGTGTGGT GATGACGCTGGGATGTGTGGTGATGACGCTGAGATGTGTGGTGATGACGG CATCTCACTGAGATGTGTGGTGATGACGCCGAGACGTGTGGTGATGACGC CGAGACGTGTGGTGATGACGCCGGTATGTGTGGTGATGACACTGGGATGT GTGGTGATGACGCTGGGATGTGTGGTGATGACGCTGAGATGTGTGGTGAT GACGGCATCTCACTGAGATGTGTGGTGATGACGCCGAGACGTGTGGTGAT GACGCCGAGACGTGTGGTGATGACGCCGGGATGTGTGGTGATGACGCTGG GATGTGTGGTGATGACGCTGAGATGTGTGGTGATGACGGCATCACTGAGA TGTGTGGTGATGACGCTGAGACGTGTGGTGATGACGCTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EVC2_chr4_5557439_5713559	5706337	G G	GATAGATA others(609): Show GATAGATAGATAGATAGATAGATACATAGATACATACATAGATAGATAGC TAGATAGATACATAGATACATAGATAGATAGATAGATAGATAGATAGATA GATACATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGA TAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGATAGATA GATAGATAGATAGATACATAGATAGATACATAGATAGATAGATACATACA TAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATAGATA GATAGATAGATACATAGATAGATACATACATACATAGATAGATACATAGA CAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATA GATACATAGATAGATAGATACATACACAGATAGATACATAGATACATAGA TAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATA GATAGATACATAGATAGATACATAGATAGATAGATAGATACATACATACA TAGATAGATAGATAGATACATAGATAGATAGATACATACATACATACATA CATACATAGATAGATAC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0001 a0003c0019t0001	a0003c0019t0001g0278 a0003c0019t0001g0278	1	249	0.0040	616	c.228 others(633): Show c.228+1948_228+1949insGTATCTATCTATGTATGTATGTATGTAT GTATGTATCTATCTATCTATGTATCTATCTATCTATCTATGTATGTATGT ATCTATCTATCTATCTATGTATCTATCTATGTATCTATCTATCTATCTAT CTATCTATCTATGTATCTATCTATCTATCTATGTATCTATCTATGTATCT ATGTATCTATCTGTGTATGTATCTATCTATCTATGTATCTATCTATCTAT CTATGTATCTATCTATCTATCTATGTATCTATCTATCTGTCTATGTATCT ATCTATGTATGTATGTATCTATCTATGTATCTATCTATCTATCTATCTAT CTATCTATCTATGTATCTATCTATCTATGTATCTATCTATGTATGTATCT ATCTATCTATGTATCTATCTATGTATCTATCTATCTATCTATCTATCTAT GTATCTATCTATCTATCTATCTATCTATGTATCTATCTATCTATCTATGT ATCTATCTATGTATCTATCTATCTATCTATCTATGTATCTATCTATCTAT CTATCTATCTATCTATCTATGTATCTATGTATCTATCTAGCTATCTATCT ATGTATGTATCTATGTATCTATCTATCTATCTATCTAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	1/21			chr4	TogoVar
F5_chr1_169506951_169591481	169555633	T T	TCAACCAT others(609): Show TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAG TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGG GTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAATAAATAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	181	0.0055	616	c.953 others(631): Show c.953-287_953-286insTTTTTTTTTTTTTTTTTTTATTTATTTTTT TTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGT TACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGTC ATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGAC CCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGAT CTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTT TTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATG TCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCC ATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACA TTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACA TACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTAT ATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATC CCTGAGGAATCGCCACACTGACTTCCACAATGGTTG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F5_chr1_169506951_169591481	169555633	T T	TCAACCAT others(609): Show TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAG TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGG GTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAATAAATAA ATAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0002 a0010c0012t0002	a0010c0012t0002g0047 a0010c0012t0002g0047	1	181	0.0055	616	c.953 others(631): Show c.953-287_953-286insTTTTTTTTTTTTTTTATTTATTTATTTTTT TTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGT TACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGTC ATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGAC CCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGAT CTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTT TTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATG TCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCC ATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACA TTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACA TACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTAT ATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATC CCTGAGGAATCGCCACACTGACTTCCACAATGGTTG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
FBXO47_chr17_38931432_38972403	38946560	A A	ATATATAT others(609): Show ATATATATAAATATATAAATATATGAATAAAAATATATAAAAATATATAC ATATATAAATATAAATATATAATATATAAATATATAAATATATAAATATA TAAATATAAATATATAAAAATATATAAATATATAAAAATATATAAATATA TAAAAATATATAAATATATATAAATATATAAATATATAAATATATAAAAA TATATAAATATATAAATATATAAAAATATATAAATACATAAATATATAAA TATATAAATATATATACATAAATATATAAATATATAAATATATAAATATA TAAATATATAAATACATAATATATAAATATAAAATATATATAATATATAA AATATATTAAAAATATAAAAATATATATAAAAAATATATAAATATATAAA AATATATAAAAAATATATACACATATAAATATATATAAAAATATATAAAT ATATATAAAAATATATAAATATATATTATATATAAATATATAATATATAA ATATATATAAATATATAAATATATATAAATATATACAATATATAAATATA TATAAATATATACAATATATAAATATATATAAATATATACAATATATAAA TATATATAAATATATAC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02886.hp1 HG01515.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0245 a0001c0001t0001g0249	2	338	0.0059	616	c.617 others(633): Show c.617-1425_617-1424insGTATATATTTATATATATTTATATATTG TATATATTTATATATATTTATATATTGTATATATTTATATATATTTATAT ATTGTATATATTTATATATATTTATATATTTATATATATTTATATATTAT ATATTTATATATAATATATATTTATATATTTTTATATATATTTATATATT TTTATATATATTTATATGTGTATATATTTTTTATATATTTTTATATATTT ATATATTTTTTATATATATTTTTATATTTTTAATATATTTTATATATTAT ATATATTTTATATTTATATATTATGTATTTATATATTTATATATTTATAT ATTTATATATTTATATATTTATGTATATATATTTATATATTTATATATTT ATGTATTTATATATTTTTATATATTTATATATTTATATATTTTTATATAT TTATATATTTATATATTTATATATATTTATATATTTTTATATATTTATAT ATTTTTATATATTTATATATTTTTATATATTTATATTTATATATTTATAT ATTTATATATTTATATATTATATATTTATATTTATATATGTATATATTTT TATATATTTTTATTCATATATTTATATATTTATATATA	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406062	T T	TCTTCCTC others(609): Show TCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTG GACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCAC TGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTT TGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTG TGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCT TCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTC AGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGC TTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACAT CTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTG TGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGA CCTCTGTGACATCTAGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	266	0.0038	616	c.77 others(625): Show c.771_*772insCCTAGATGTCACAGAGGTCCACTCAGTGACAAACAC ACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGAC AAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTC AGTGACAAACACACACTGAAGGCCTGAGGAAGCCTAGATGTCACAGAGGT CCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCAC AGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGA TGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAG ACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTG AGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAA GGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACAC ACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAA ACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAG TGACAAACACACACTGAAGGCCTGAGGAAG	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	771		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406396	C C	CGTCTTCC others(609): Show CGTCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTCGTCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAG TGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAATGTGTGTTTGTC ACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTG TTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAA TGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGC CTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCC TCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCG TCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTCGTCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTG GACCTCTGTGACATCTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0085 a0001c0001t0025g0085	1	227	0.0044	616	c.43 others(625): Show c.437_*438insTAGATGTCACAGAGGTCCACTCAGTGACAAACACAC ACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAA ACACACATTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAG TGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCC ACTCAGTGACAAACACACATTGAAGGCCTGAGGAAGACGAGATGTCACAG AGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATG TCACAGAGGTCCACTCAGTGACAAACACACATTGAAGGCCTGAGGAAGAC GAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAG GAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACATTGAAGG CCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACAC TGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAAC ACACATTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTG ACAAACACACATTGAAGGCCTGAGGAAGAC	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	437		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406452	A A	AGGCTTCC others(609): Show AGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGGCCTCTGTG ACATCTAGGCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAG TGGGCCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAATGTGTGTTTGTC ACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAATGTGTG TTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAG TGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGC CTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCC TCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAG GCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTG GACCTCTGTGACATCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0043 a0001c0001t0046g0043	1	143	0.0070	616	c.38 others(625): Show c.381_*382insGAGATGTCACAGAGGTCCACTCAGTGACAAACACAC ACTGAAGGCCTGAGGAAGCCTAGATGTCACAGAGGTCCACTCAGTGACAA ACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAG TGACAAACACACACTGAAGGCCTGAGGAAGCCTAGATGTCACAGAGGTCC ACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGCCTAGATGTCACAG AGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATG TCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGAC GAGATGTCACAGAGGTCCACTCAGTGACAAACACACATTGAAGGCCTGAG GAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACATTGAAGG CCTGAGGAAGACTAGATGTCACAGAGGCCCACTCAGTGACAAACACACAC TGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAAC ACACATTGAAGGCCTGAGGAAGCCTAGATGTCACAGAGGCCCACTCAGTG ACAAACACACACTGAAGGCCTGAGGAAGCC	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	381		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406510	T T	TCTTCCTC others(609): Show TCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGGCCTCTGTGAC ATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTG GACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCAC TGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTT TGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTG TGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCT TCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTC AGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTC TTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACAT CTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTG TGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGA CCTCTGTGACATCTAGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0023 a0001c0001t0011g0023	2	237	0.0084	616	c.32 others(625): Show c.323_*324insCCTAGATGTCACAGAGGTCCACTCAGTGACAAACAC ACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGAC AAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTC AGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGT CCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGCCTAGATGTCAC AGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGA TGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAG ACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTG AGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAA GGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACAC ACTGAAGGCCTGAGGAAGCCTAGATGTCACAGAGGTCCACTCAGTGACAA ACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGCCCACTCAG TGACAAACACACACTGAAGGCCTGAGGAAG	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	323		chr2	TogoVar
KIRREL3_chr11_126418358_127005770	126799415	C C	CATGTGTG others(609): Show CATGTGTGTATCTGTGTGTGCATATGTGTATCTGCATATGTGCATGTATC TATGTGTGCATGTGTGTGTCTGTGTGTGCATGTGCATGTATCTGTGCATG TGCATGTATCTGTGCATGTGTGTATCTGTGTGCATGTGCACGTGGTATCT GGGTGTGTGCATGTGTGTGCATGTGTGTATCTGTGTGTGCATATGTGTAT CTGCATATGTGCATGTATCTATGTGTGCATGTGTGTGTCTGTGTGTGCAT GTGCATGTATCTGTGCATGTGCATGTATCTGTGCATGTGTGTATCTGTGT GCATGTGCACGTGGTATCTGGGTGTGTGCATGTGTGTGCATGTGTGTATC TGTGTGTGCATATGTGTATCTGTGTGTGCATGTGTGTATCTGTGTGTGTG CATGTGTATATCTGTGTGTGCATGTGCGTATCTGTGTTGTGCATGTGTGT ATCTGTGTGTGTGCATGTGTGTATCTGTGTGTGCACGTGGTATCTGTGTG TGTGCATGTATCTGCGTGTGTGTATTCATGTGTGCATGTGTGTATCTGTG TGTACACATATCTGTGTGTGCATGTATCTGTGTGTGCGCATGTGTGTATC TGTTTGCATGTGTGTAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01243.hp1 HG01346.hp2 others(10): Show HG00140.hp1 HG01243.hp1 HG01346.hp2 HG01891.hp1 HG01952.hp1 HG02280.hp2 HG02622.hp2 HG02647.hp2 NA18984.hp1 NA19030.hp2 NA19043.hp2 NA19070.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0002c0014	a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 others(9): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 a0001c0001t0016 a0001c0001t0045 a0001c0001t0046 a0001c0002t0025 a0001c0003t0001 a0001c0003t0028 a0001c0004t0037 a0001c0010t0015 a0002c0014t0002	a0001c0001t0002g0106 a0001c0001t0005g0015 a0001c0001t0014g0037 others(10): Show a0001c0001t0002g0106 a0001c0001t0005g0015 a0001c0001t0014g0037 a0001c0001t0016g0063 a0001c0001t0045g0036 a0001c0001t0046g0049 a0001c0002t0025g0007 a0001c0003t0001g0098 a0001c0003t0001g0107 a0001c0003t0028g0018 a0001c0004t0037g0051 a0001c0010t0015g0089 a0002c0014t0002g0059	13	113	0.1150	616	c.55+ others(635): Show c.55+201039_55+201040insATACACACATGCAAACAGATACACAC ATGCGCACACACAGATACATGCACACACAGATATGTGTACACACAGATAC ACACATGCACACATGAATACACACACGCAGATACATGCACACACACAGAT ACCACGTGCACACACAGATACACACATGCACACACACAGATACACACATG CACAACACAGATACGCACATGCACACACAGATATACACATGCACACACAC AGATACACACATGCACACACAGATACACATATGCACACACAGATACACAC ATGCACACACATGCACACACCCAGATACCACGTGCACATGCACACAGATA CACACATGCACAGATACATGCACATGCACAGATACATGCACATGCACACA CAGACACACACATGCACACATAGATACATGCACATATGCAGATACACATA TGCACACACAGATACACACATGCACACACATGCACACACCCAGATACCAC GTGCACATGCACACAGATACACACATGCACAGATACATGCACATGCACAG ATACATGCACATGCACACACAGACACACACATGCACACATAGATACATGC ACATATGCAGATACACATATGCACACACAGATACACACAT	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATTTAT others(609): Show ATATTTATATATATTTATATATATTTATATATATATTTATATATATATTT ATATATATATTTATATATATATTTATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATATTTATATATATTTAT ATATATTTATATATATATTTATATATATATTTATATATATATTTATATAT ATTTATATATATATATTTATATATATATATTTTTATATATATTTATATAT ATTTTTATATATAGTTATATATATTTATATAGTTATATATATTTATGTAT AGTTATATATAGTTATGTATAGTTATATATAGTTATATATATAGTTATAT ATAGTTATATATATATTTATATATATATATTTTTATATATATATTTATAT ATATATATTTTTATATATATATTTATATATATTTATATATATAAATATAT ATATATTTATATATATATTTATATATATAAATATATATATATTTATATAT ATATTTATATATATTTATATATATTTATATATATTTATATATTTATATAT GTATTTATATATATTTATATATGTATTTATATATATTTATATATAATTAT ATGTATTTATATATATT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0011 a0003c0003t0002g0011	1	80	0.0125	616	c.125 others(633): Show c.125+9673_125+9674insTTATATATATTTATATATATTTATATAT ATATTTATATATATATTTATATATATATTTATATATATATTTATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATATTTATATATATTTATATATATTTATATATATATTTATATATATATTT ATATATATATTTATATATATTTATATATATATATTTATATATATATATTT TTATATATATTTATATATATTTTTATATATAGTTATATATATTTATATAG TTATATATATTTATGTATAGTTATATATAGTTATGTATAGTTATATATAG TTATATATATAGTTATATATAGTTATATATATATTTATATATATATATTT TTATATATATATTTATATATATATATTTTTATATATATATTTATATATAT TTATATATATAAATATATATATATTTATATATATATTTATATATATAAAT ATATATATATTTATATATATATTTATATATATTTATATATATTTATATAT ATTTATATATTTATATATGTATTTATATATATTTATATATGTATTTATAT ATATTTATATATAATTATATGTATTTATATATATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LINGO2_chr9_27932617_29218601	28189269	G G	GAGGAAGG others(609): Show GAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGA GGGAGGAAGGAAGGGAGGGAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGG AAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGAAGGGA GGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGG AAGGGAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGGAGGAA GGAAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGAAGG GAGGGAGGAAGGAAGGGAGGGAGGAAGGGAGGGAGGAAGGAAGGGAGGGA GGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGAAGGGAGGGAGG AAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAA GGGAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGGGAGG GAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAA GGGAGGGAAGAAGGAAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGGAAGG AAGGAAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	25	0.0400	616	c.-36 others(637): Show c.-36+105938_-36+105939insTCCTCCCTCCCTTCCTTCCTTCCT CCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTCTTCCCTCCCTTCCTTC CTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCT TCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTC CTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCT CCCTTCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCC CTTCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCT TCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTCC CTCCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTCCCT CCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTCCCTTC CTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCT TCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTC CTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LMF1_chr16_848634_975984	922683	T T	TGCGTGTT others(609): Show TGCGTGTTGTTGCGAAGGCCCTGTGTGAAAGTCGCCTGGGTTTTCGTGTG TGATGTGGTGTTGGTGTCATGTGGTGTTGGTGTCGTGTTGTTGCGAAGGC CCTGTGTGAAGGTCGCCTCGGTTTTCGGGTGTGATGTGGTGTTGGCGTCG TGTTGTTGCGAAGGCCCTGTGTGAAGGTCGCCTGGGTTTTCGGGTGTGAT GTGGTGTTGGTGTCATGTGGTGTTGGTGTCGTGTTGTTGCGAAGGCCCTG TGTGAAGGTCGCCTCGGTTTTCGGGTGTGATGTGGTGTTGGCGTCGTGTT GTTACGAAGGCCCTGTGTGAAAGTCGCCTGGGTTTTCGGGTGTGATGTGG TGTTGGCGTCGTGTTGTTGCGAAGGCCCTGTGTGAAGGTCGCCTCGGTTT TCGGGTGTGATGTGGTGTTGGCGTCGTGTTGTTGCGAAGGCCCTGTGTGA AGGTCGCCTGGGTTTTCGGGTGTGATGTGGTGTTGGCGTCGTGTTGTTGC GAAGGCCCTGTGTGAAGGTCGCCTGGGTTTTCGGGTGTGATGTGGTGTTG GCGTCGTGTTGTTGCGAAGGCCCTGTGTGAAGGTCGCCTGGGTTTTCGGG TGTGATGTGGTGTTGGC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0005 a0003c0009t0001g0005	1	272	0.0037	616	c.514 others(635): Show c.514+11560_514+11561insGCCAACACCACATCACACCCGAAAAC CCAGGCGACCTTCACACAGGGCCTTCGCAACAACACGACGCCAACACCAC ATCACACCCGAAAACCCAGGCGACCTTCACACAGGGCCTTCGCAACAACA CGACGCCAACACCACATCACACCCGAAAACCCAGGCGACCTTCACACAGG GCCTTCGCAACAACACGACGCCAACACCACATCACACCCGAAAACCGAGG CGACCTTCACACAGGGCCTTCGCAACAACACGACGCCAACACCACATCAC ACCCGAAAACCCAGGCGACTTTCACACAGGGCCTTCGTAACAACACGACG CCAACACCACATCACACCCGAAAACCGAGGCGACCTTCACACAGGGCCTT CGCAACAACACGACACCAACACCACATGACACCAACACCACATCACACCC GAAAACCCAGGCGACCTTCACACAGGGCCTTCGCAACAACACGACGCCAA CACCACATCACACCCGAAAACCGAGGCGACCTTCACACAGGGCCTTCGCA ACAACACGACACCAACACCACATGACACCAACACCACATCACACACGAAA ACCCAGGCGACTTTCACACAGGGCCTTCGCAACAACACGC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	3/10			chr16	TogoVar
LMF1_chr16_848634_975984	922683	T T	TGCGTGTT others(609): Show TGCGTGTTGTTGCGAAGGCCCTGTGTGAAAGTCGCCTGGGTTTTCGTGTG TGATGTGGTGTTGGTGTCATGTGGTGTTGGTGTCGTGTTGTTGCGAAGGC CCTGTGTGAAGGTCGCCTCGGTTTTCGGGTGTGATGTGGTGTTGGCGTCG TGTTGTTGCGAAGGCCCTGTGTGAAGGTCGCCTGGGTTTTCGGGTGTGAT GTGGTGTTGGTGTCATGTGGTGTTGGTGTCGTGTTGTTGCGAAGGCCCTG TGTGAAGGTCGCCTCGGTTTTCGGGTGTGATGTGGTGTTGGCGTCGTGTT GTTACGAAGGCCCTGTGTGAAAGTCGCCTGGGTTTTCGGGTGTGATGTGG TGTTGGTGTCGTGTTGTTGCGAAGGCCCTGTGTGAAGGTCGCCTCGGTTT TCGGGTGTGATGTGGTGTTGGCGTCGTGTTGTTGCGAAGGCCCTGTGTGA AGGTCGCCTGGGTTTTCGGGTGTGATGTGGTGTTGGCGTCGTGTTGTTGC GAAGGCCCTGTGTGAAGGTCGCCTGGGTTTTCGGGTGTGATGTGGTGTTG GCGTCGTGTTGTTGCGAAGGCCCTGTGTGAAGGTCGCCTGGGTTTTCGGG TGTGATGTGGTGTTGGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp2 HG01069.hp2 others(3): Show HG00099.hp2 HG00733.hp2 HG01069.hp2 HG01515.hp1 HG01517.hp2 HG02738.hp1	a0003 a0003	a0003c0009 a0003c0032 a0003c0009 a0003c0032	a0003c0009t0001 a0003c0032t0001 a0003c0009t0001 a0003c0032t0001	a0003c0009t0001g0001 a0003c0009t0001g0002 a0003c0009t0001g0003 others(3): Show a0003c0009t0001g0001 a0003c0009t0001g0002 a0003c0009t0001g0003 a0003c0009t0001g0004 a0003c0009t0001g0006 a0003c0032t0001g0007	6	277	0.0217	616	c.514 others(635): Show c.514+11560_514+11561insGCCAACACCACATCACACCCGAAAAC CCAGGCGACCTTCACACAGGGCCTTCGCAACAACACGACGCCAACACCAC ATCACACCCGAAAACCCAGGCGACCTTCACACAGGGCCTTCGCAACAACA CGACGCCAACACCACATCACACCCGAAAACCCAGGCGACCTTCACACAGG GCCTTCGCAACAACACGACGCCAACACCACATCACACCCGAAAACCGAGG CGACCTTCACACAGGGCCTTCGCAACAACACGACACCAACACCACATCAC ACCCGAAAACCCAGGCGACTTTCACACAGGGCCTTCGTAACAACACGACG CCAACACCACATCACACCCGAAAACCGAGGCGACCTTCACACAGGGCCTT CGCAACAACACGACACCAACACCACATGACACCAACACCACATCACACCC GAAAACCCAGGCGACCTTCACACAGGGCCTTCGCAACAACACGACGCCAA CACCACATCACACCCGAAAACCGAGGCGACCTTCACACAGGGCCTTCGCA ACAACACGACACCAACACCACATGACACCAACACCACATCACACACGAAA ACCCAGGCGACTTTCACACAGGGCCTTCGCAACAACACGC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	3/10			chr16	TogoVar
LRRC27_chr10_132327193_132386508	132364392	C C	CGCTTACA others(609): Show CGCTTACATCTACCTCCACACCCACAATTACACCCACACTTACATCTACC TCCACACCCGCGCTTACACCCACCCTTACATCTACCTCCACGCCCACACT CACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACA CTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACGCCCA CACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACC CACACTCACACCCACCCACACTCACACCCACGCTTACATCTACCTCCACG CCCACACTCACACCCACGCTTACATCTACCTCCACGCCCACACTCACACC CACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACA CCCACGCTTACATCTACCTCCACGCCCACACTCACACCCACCCACACTTA CACCCACCCTTACATCTACCTCCACGCCCACACTTACACCCACGCTTACA TCTACCTCCACACCCGCGCTTACACCCACGCTTACATCTACCTCCACGCC CACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACG CCCACACTTACACTCAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	257	0.0039	616	c.129 others(635): Show c.1290-1032_1290-1031insGCTTACATCTACCTCCACACCCACAA TTACACCCACACTTACATCTACCTCCACACCCGCGCTTACACCCACCCTT ACATCTACCTCCACGCCCACACTCACACCCACCCACACTTACACCCACCC TTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCAC GCTTACATCTACCTCCACGCCCACACTCACACCCACCCACACTTACACCC ACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTCACAC CCACGCTTACATCTACCTCCACGCCCACACTCACACCCACGCTTACATCT ACCTCCACGCCCACACTCACACCCACCCACACTTACACCCACGCTTACAT CTACCTCCACACCCACACTCACACCCACGCTTACATCTACCTCCACGCCC ACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACGC CCACACTTACACCCACGCTTACATCTACCTCCACACCCGCGCTTACACCC ACGCTTACATCTACCTCCACGCCCACACTCACACCCACCCACACTTACAC CCACGCTTACATCTACCTCCACGCCCACACTTACACTCAT	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10			chr10	TogoVar
LRRC74A_chr14_76821408_76875304	76867188	A A	AGTGTGTG others(609): Show AGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGG GGTGTGTGGGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGGGGGGTGTGTG TTGGGGGGATGGGGTGTGTGTGTGGTAGTGTGTGGGGGGGTGTGTGTGTT GGGGGTGGGGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGT GTGTGTGTGGGTGTGTGTGTGTTGGGGGGGTGGGGTGTGTGTGTGGTAGT GTGTGGGGGGGTGTGTGTGTTGGGGGTGGGGTGTGTGTGTTGGGGGGTGG GGTGTGTGTGTGTGTGGTAGTGTGTGTGTGGGTGTGTGTGTGTTGGGGGG TGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGGGGGAGTGTGTGTGTTGGG GGGTGGGGTGTGTGTGTGTGTGGTGGTGTGTGTGGGGGAGTGTGTGTGTT GGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGGGGGTGTGTGTTG GGGGGGTGGGGTGTGTGTGTTGGGGGGGTAGTGTGTGTGGGGGGGTGTGT GTGTTGGGGGTGGGGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTG GTAGTGTGTGTGTGGGT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0098 a0002c0002t0001g0098	1	239	0.0042	616	c.130 others(633): Show c.1309-117_1309-116insTGTGTGGGTGTGTTGGGGGGTGGGGTGT GTGTGTGTGGGGGGTGTGTGTTGGGGGGATGGGGTGTGTGTGTGGTAGTG TGTGGGGGGGTGTGTGTGTTGGGGGTGGGGTGTGTGTGTTGGGGGGTGGG GTGTGTGTGTGTGTGGTAGTGTGTGTGTGGGTGTGTGTGTGTTGGGGGGG TGGGGTGTGTGTGTGGTAGTGTGTGGGGGGGTGTGTGTGTTGGGGGTGGG GTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGTG GGTGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGT GGGGGAGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTGGTGTG TGTGGGGGAGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGT GTGTGTGGGGGTGTGTGTTGGGGGGGTGGGGTGTGTGTGTTGGGGGGGTA GTGTGTGTGGGGGGGTGTGTGTGTTGGGGGTGGGGTGTGTGTGTTGGGGG GTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGTGGGTGTGTGTGTGTTGG GGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGGGG	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
MALRD1_chr10_19043801_19739478	19315431	A A	ATATAATT others(609): Show ATATAATTTATATAAATATATAAATATAATTTATAGAAATATAATTTATA TAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATAAC TATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAG AAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTA TATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATA ACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTAT AGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATT TATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATA TAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTT ATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAA TTTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATA TATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAAT TTATATAAATATATAAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0061 a0061	a0061c0048 a0061c0048	a0061c0048t0002 a0061c0048t0002	a0061c0048t0002g0087 a0061c0048t0002g0087	1	8	0.1250	616	c.342 others(635): Show c.3420-8498_3420-8497insAAATATAATTTATAGAAATATAATTT ATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATAT AACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTA TAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAAT TTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATAT ATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATT TATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATA ATTTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAAT ATATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAA TTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATA TAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAA ATATATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTAT AATTTATATAAATATATAACTATAATTTATATAAATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MEGF6_chr1_3482951_3616508	3596528	C C	CGCGCCAT others(609): Show CGCGCCATCCCCTGCCCAGCCCCCGTCTCCACCCCAGGGCACCCCGCGCC ATCCCCTGCCCAGCCCCCGTCTCCACCCCAGGGCACCCTGCGCCATCCCC TGCCCAGCCCCCGTCTCCACCCCAGGGCACCCTGCGCCATCCCCTGCCCA GACCCCGTCTCCACCCCAGGGCACCCCGCGCCATCCCCTGCCCAGCCCCC GTCTCCACCCCAGGGCACCCTGCGCCATCCCCTGCCCAGCCCCCGTCTCC ACCCCAGGGCACCCTGCGCCATCCCCTGCCCAGACCCCGTCTCCACCCCA GGGCACCCTGCGCCATCCCCTGCCCAGCCCCCGTCTCCACCCCAGGGCAC CCTGCGCCATCCCCTGCCCAGACCCCGTCTCCACCCCAGGGCACCCCGCG CCATCCCCTGCCCAGCCCCCGTCTCCACCCCAGGGCACCCTGCGCCATCC CCTGCCCAGCCCCCGTCTCCACCCCAGGGCACCCTGCGCCATCCCCTGCC CAGACCCCGTCTCCACCCCAGGGCACCCCGCGCCATCCCCTGCCCAGCCC CCGTCTCCACCCCAGGGCACCCTGCGCCATCCCCTGCCCAGCCCCCGTCT CCACCCCAGGGCACCCT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0024 a0005c0005t0001g0024	1	287	0.0035	616	c.267 others(633): Show c.267-1082_267-1081insAGGGTGCCCTGGGGTGGAGACGGGGGCT GGGCAGGGGATGGCGCAGGGTGCCCTGGGGTGGAGACGGGGGCTGGGCAG GGGATGGCGCGGGGTGCCCTGGGGTGGAGACGGGGTCTGGGCAGGGGATG GCGCAGGGTGCCCTGGGGTGGAGACGGGGGCTGGGCAGGGGATGGCGCAG GGTGCCCTGGGGTGGAGACGGGGGCTGGGCAGGGGATGGCGCGGGGTGCC CTGGGGTGGAGACGGGGTCTGGGCAGGGGATGGCGCAGGGTGCCCTGGGG TGGAGACGGGGGCTGGGCAGGGGATGGCGCAGGGTGCCCTGGGGTGGAGA CGGGGTCTGGGCAGGGGATGGCGCAGGGTGCCCTGGGGTGGAGACGGGGG CTGGGCAGGGGATGGCGCAGGGTGCCCTGGGGTGGAGACGGGGGCTGGGC AGGGGATGGCGCGGGGTGCCCTGGGGTGGAGACGGGGTCTGGGCAGGGGA TGGCGCAGGGTGCCCTGGGGTGGAGACGGGGGCTGGGCAGGGGATGGCGC AGGGTGCCCTGGGGTGGAGACGGGGGCTGGGCAGGGGATGGCGCGGGGTG CCCTGGGGTGGAGACGGGGGCTGGGCAGGGGATGGCGC	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	2/36			chr1	TogoVar
MEX3D_chr19_1549672_1573325	1550007	C C	CCCATCCA others(609): Show CCCATCCACCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATC CACCAACCCTCCCATCCATCCACCCATCCATCCACCTGTCCACCCATCCA CCCATTCATCCACCCACCCACCCATCCATCCATCCATCCACCCATCCATT CACTCACCTGCCCATCCACCCATCCATTCACTCACCTGCCCATCCACCCA TCCATGCACTCACCTGCCCATCCACCCATCCATGCACTCACCTGCCTATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAATCATCCA CCCACCCATCCATCCATCCATCCAACCATCCACCCACTCATCTATCCATC CATCCATCCATCCATCCATCCATTTACCCACCCTCTCATCCATCCACCCA CCCATCCACTTGTCCACCCATCCACCTGTTCACCCATCCACCCATCCATC CATCCATCCAACCATCCACCCATCTATCCATCCATCCATCCAACCACTCA TCCGTCCATCCATCCATCCATCCATCCATTTACCCACTCTCCCATCCACC CACCCATCGACTTGTCCACCCATACACCTGTTCACCCATCCACCCATCCA TCCATCCATCCATCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0042 a0001c0001t0011g0042	1	191	0.0052	616	c.55 others(627): Show c.5555_*5556insTTGGATGGATGGATGGATGGATGGGTGGATGGGT GAACAGGTGTATGGGTGGACAAGTCGATGGGTGGGTGGATGGGAGAGTGG GTAAATGGATGGATGGATGGATGGATGGACGGATGAGTGGTTGGATGGAT GGATGGATAGATGGGTGGATGGTTGGATGGATGGATGGATGGGTGGATGG GTGAACAGGTGGATGGGTGGACAAGTGGATGGGTGGGTGGATGGATGAGA GGGTGGGTAAATGGATGGATGGATGGATGGATGGATGGATAGATGAGTGG GTGGATGGTTGGATGGATGGATGGATGGGTGGGTGGATGATTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATAGGCAGGTGAGTGC ATGGATGGGTGGATGGGCAGGTGAGTGCATGGATGGGTGGATGGGCAGGT GAGTGAATGGATGGGTGGATGGGCAGGTGAGTGAATGGATGGGTGGATGG ATGGATGGATGGGTGGGTGGGTGGATGAATGGGTGGATGGGTGGACAGGT GGATGGATGGGTGGATGGATGGGAGGGTTGGTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGAACAGGTGGATGG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4664		chr19	TogoVar
MEX3D_chr19_1549672_1573325	1550007	C C	CCCATCCA others(609): Show CCCATCCACCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCACCAACCCTCCCATCCATCCACCCATCCATCCACCTGTCCA CCCATCCACCCATTCATCCACCCACCCACCCATCCATCCATCCATCCACC CATCCATTCACTCACCTGCCCATCCACCCATCCATTCACTCACCTGCCCA TCCACCCATCCATGCACTCACCTGCCTATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCAATCATCCACCCACCCATCCATCCA TCCATCCAACCATCCACCCACTCATCTATCCATCCATCCATCCATCCATC CATCCATTTACCCACCCTCTCATCCATCCACCCACCCATCCACTTGTCCA CCCATCCACCTGTTCACCCATCCACCCATCCATCCATCCATCCAACCATC CACCCATCTATCCATCCATCCATCCAACCACTCATCCGTCCATCCATCCA TCCATCCATCCATTTACCCACTCTCCCATCCACCCACCCATCGACTTGTC CACCCATACACCTGTTCACCCATCCACCCATCCATCCATCCATCCATCCA ACCATCCACCCATCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0016 a0001c0023t0016	a0001c0023t0016g0241 a0001c0023t0016g0241	1	191	0.0052	616	c.55 others(627): Show c.5555_*5556insATGGATGGGTGGATGGTTGGATGGATGGATGGAT GGATGGGTGGATGGGTGAACAGGTGTATGGGTGGACAAGTCGATGGGTGG GTGGATGGGAGAGTGGGTAAATGGATGGATGGATGGATGGATGGACGGAT GAGTGGTTGGATGGATGGATGGATAGATGGGTGGATGGTTGGATGGATGG ATGGATGGGTGGATGGGTGAACAGGTGGATGGGTGGACAAGTGGATGGGT GGGTGGATGGATGAGAGGGTGGGTAAATGGATGGATGGATGGATGGATGG ATGGATAGATGAGTGGGTGGATGGTTGGATGGATGGATGGATGGGTGGGT GGATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATAGGCAGGTGAGTGCATGGATGGGTGGATGGGCAGGTGAGTGAAT GGATGGGTGGATGGGCAGGTGAGTGAATGGATGGGTGGATGGATGGATGG ATGGGTGGGTGGGTGGATGAATGGGTGGATGGGTGGACAGGTGGATGGAT GGGTGGATGGATGGGAGGGTTGGTGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGAACAGGTGGATGG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4664		chr19	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ACATATAT others(609): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATGTATATTC ATATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA19077.hp2 HG01167.hp1 NA19077.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0053 a0004c0004t0001g0054 a0004c0004t0001g0053 a0004c0004t0001g0054	2	169	0.0118	616	c.394 others(631): Show c.394-653_394-652insGTTCATATATATATTCATATATATATGTTC ATGTATATTCATATATATATGTTCATATATATATTCATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ACATATAT others(609): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATGTATATTC ATATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0019 a0019	a0019c0024 a0019c0024	a0019c0024t0002 a0019c0024t0002	a0019c0024t0002g0209 a0019c0024t0002g0209	1	165	0.0061	616	c.394 others(631): Show c.394-573_394-572insGTTCATGTATATTCATATATATATGTTCAT ATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATGTTCATATATATATTCATATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(609): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0206 a0002c0002t0002g0206	1	165	0.0061	616	c.394 others(631): Show c.394-608_394-607insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATA TATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCA TATATATATTCATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(609): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp2 HG01515.hp1 HG01515.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0290 a0002c0002t0002g0291 a0002c0002t0002g0290 a0002c0002t0002g0291	2	166	0.0120	616	c.394 others(631): Show c.394-608_394-607insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATA TATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCA TATATATATTCATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589036	C C	CATATATA others(609): Show CATATATATGTTCATATATATATTCATATATATATGTTCATGTATATTCA TATATATATGTTCATATATATATTCATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATA TATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCA TATATATATTCATATATATATGTTCATATATATATTCATATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0273 a0002c0002t0002g0273	1	203	0.0049	616	c.394 others(631): Show c.394-573_394-572insGTTCATGTATATTCATATATATATGTTCAT ATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(609): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTATACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATA TATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATA TACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATA CACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACA CAGTATGTATACCGTATATATACACAGTATGTATACTGTGTATGCAGTAT GTATACAGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCA TGCAGTATGTATACTGTATATATACACTATACAGTATGTATACTGTATAT ATACACTATACAGTATGTATACTGTATATATACACACAGTATGTATACTG TATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0273 a0001c0007t0001g0273	1	118	0.0085	616	c.-75 others(635): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTATAGTGTATATATACAGT ATACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATG TATACAGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCAT ACACAGTATACATACTGTGTATATATACGGTATACATACTGTGTATATAT ACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGG TATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTA TACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATA CATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACA TACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATA CATACAGTATACATACATACAGTATACATACATACAGTATACATGCTGTA TACAGTATACATGCTGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(609): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTG GGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGG TGGGGGGTGGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGTGGGTGGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGG GTGGGGGTGGGGGGGGC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0206 a0001c0003t0001g0206	1	261	0.0038	616	c.91+ others(629): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGTG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGGTGGGGGGTGGGG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGTGGGTGGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGTGGGG GGGGCTGAGGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOC4L_chr12_132139457_132157468	132148957	A A	ACTCACAC others(609): Show ACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCT ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	230	0.0043	616	c.901 others(629): Show c.901+65_901+66insACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC CTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149124	C C	CGCCGCCT others(609): Show CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CCTACCACACCACTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCC CTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCATACCACACCCCTAATCCCCTCG GTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAA TCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	282	0.0035	616	c.901 others(631): Show c.901+237_901+238insGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCCTACCACACCACTAATCCCCTCGGTGAGTGCGGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC CTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCATACCACACCCC TAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACAC CACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149534	C C	CACCACAC others(609): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCGGCCGCCTCACTCCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	227	0.0044	616	c.901 others(631): Show c.901+677_901+678insGCTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149710	C C	TACCACAC others(609): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCAC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0017 a0017	a0017c0027 a0017c0027	a0017c0027t0001 a0017c0027t0001	a0017c0027t0001g0175 a0017c0027t0001g0175	1	230	0.0043	616	c.901 others(631): Show c.901+814_901+815insTACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NXN_chr17_794310_984776	841591	A A	AGCAGGTC others(609): Show AGCAGGTCCCCCCTGACCACGGCGCATCTCACACCCACAGGCAGGTCCCC CCGACCACAGAGCATCTCACACGGGCAAGCAGGTCCACCCTGACCACGGA GCATCTCACACGGGCGAGCAGGTCCCCCCGACCACAGAGCATCTCACGCC GGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTC CACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCA CGGCGCATCTCATGCCGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCA CACCCACGGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCA GGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTG ACCACGGCGCATCTCATGCCGGCGAGCAGGTCCCCCCGACCACGGCGCAT CTCACACCCACGGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCG AGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCAC CCTGACCACGGCGCATCTCATGCCGGCGAGCAGGTCCCCCCGACCACGGC GCATCTCACACCCACGG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03098.hp1 NA20300.hp2 HG02630.hp1 HG03098.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0044 a0001c0001t0001g0069 a0001c0001t0001g0012 a0001c0001t0001g0044 a0001c0001t0001g0069	3	207	0.0145	616	c.361 others(635): Show c.361-15514_361-15513insCCGTGGGTGTGAGATGCGCCGTGGTC GGGGGGACCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGTGGACCTG CTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGT GAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGT GGTCGGGGGGACCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGTGGA CCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCC GTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCG CCGTGGTCGGGGGGACCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGG TGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTC GCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCGTGAGA TGCTCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTC AGGGTGGACCTGCTTGCCCGTGTGAGATGCTCTGTGGTCGGGGGGACCTG CCTGTGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949126	C C	CCGGCCTC others(609): Show CCGGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCT CTCCCCGTGGCCTCCTCCTCTCCCCGTGGCCTCCTCCTCTCCCCCTGCCT CCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCC CTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCGCGGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTC CTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCC TGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCGCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCC TGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCT CCCCGCGGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCC TCCTCTCCCCGCGGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCT GCCTCCTCCTCTCCCCG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	230	0.0043	616	c.360 others(635): Show c.360+30192_360+30193insCGGGGAGAGGAGGAGGCAGGGGGGAG AGGAGGAGGCAGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGG GGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGA GGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGA GGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGG GGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGCGGGGAGAGGAGGAG GCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGA GGAGGAGGCAGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGG GGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAG GCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAG GAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGG GAGAGGAGGAGGCCACGGGGAGAGGAGGAGGCCACGGGGAGAGGAGGAGG CAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCCG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(609): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	616	c.-26 others(627): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTGTCTATC GATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGA TAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATA GATACATCTATCTGTCTATCGATAGATACATCTATATGTCTATCTATAGA TAGATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATC TATAGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PDCD6_chr5_266646_319974	309566	T T	TGTCCCCG others(609): Show TGTCCCCGTGTACCCCAGTGATGGCCGCCATCCCCGTGCACCCCAGTGAT GGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCC AGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTG CACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTC CCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCC GCCGTCCCCGTGCACACCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTG AGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACC CCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCG TGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCG TCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGG CCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAG TGATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCA CCCCAGTGATGGCCGCC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03471.hp2 NA19043.hp1 HG02647.hp2 HG03471.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0020 a0001c0001t0005g0269 a0001c0001t0005g0020 a0001c0001t0005g0269	3	332	0.0090	616	c.368 others(633): Show c.368-1718_368-1717insTACCCCAGTGATGGCCGCCATCCCCGTG CACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTC CCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCC GCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTG ATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACC CCAGTGATGGCCGCCGTCCCCGTGCACACCAGTGATGGCCGCCGTCCCCG TGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCG TCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGG CCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAG TGATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCA CCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCC CGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGC CGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTG	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE10A_chr6_165322289_165668241	165619422	G G	GTGTAGGC others(609): Show GTGTAGGCTAGTGTAGGCTAGTGTAGTGTAGTAGTGTAGTCTAGTGTAGT GTAGTCTAGTGTAGTCTAGTATAGTGTAGTATAGTCTAGTGTACTGTAGT GTAGTATAGTGTAGTCTAGTGTGGTGTGGTGTAGTGTAGTGTAGTCTAGT GTACTGTAGTGTAGTGCAGTGTAGTGTAGTACAGTCTAGTGTAGTCTAGT ATAGTGTAGTCCAGTGTAGTGTAGTGTAGTCTAGTGTAGTCTAGTGTACT GTAGTGTAGTGTAGTGTAGTCTAGTGTACTGTAGTGTAGTGTAGTGTAGT CTAGTGTAGTCTAGTGTACTGTAGTGTAGTGTAGTCTAGTGTACTGTAGT GTAGTGCAGTGGTCTAGTGCAGTGTAGTCTAGTGTAGTACAGTCTAGTGT AGTCTAGTGTAGTGTAGTGTAGTCTAGTCTAGTGTAGTCTAGTGTAGTGT AGTCTAGTGTAGTCTAGTGTAGTGTAGTGTAGTCTAGTGTAGTCTAGTGT AGTCTAGTGTAGTGTAGTGTAGTCTAATGTAGTGTAGTGTAGTGTAGTCT AGCGTAGTGTACTGTAGTCTAGCGTAGTGTACTGTAGTCTAGCGTAGTGT ACTGTAGTCTAGTGTAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01109.hp1 HG01243.hp1 others(21): Show HG01099.hp2 HG01109.hp1 HG01243.hp1 HG01255.hp2 HG01515.hp1 HG02109.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02717.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03516.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0023 a0003c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 a0001c0001t0033 a0001c0002t0005 a0001c0002t0030 a0001c0004t0002 a0001c0004t0003 a0001c0005t0001 a0001c0005t0002 a0001c0007t0004 a0001c0009t0002 a0001c0010t0002 a0001c0011t0025 a0001c0023t0003 a0003c0014t0002	a0001c0001t0001g0150 a0001c0001t0002g0022 a0001c0001t0003g0072 others(21): Show a0001c0001t0001g0150 a0001c0001t0002g0022 a0001c0001t0003g0072 a0001c0001t0003g0149 a0001c0001t0009g0147 a0001c0001t0015g0043 a0001c0001t0033g0218 a0001c0002t0005g0071 a0001c0002t0005g0078 a0001c0002t0030g0085 a0001c0004t0002g0009 a0001c0004t0003g0081 a0001c0005t0001g0035 a0001c0005t0001g0070 a0001c0005t0001g0134 a0001c0005t0002g0077 a0001c0005t0002g0154 a0001c0007t0004g0076 a0001c0009t0002g0042 a0001c0010t0002g0082 a0001c0011t0025g0111 a0001c0023t0003g0115 a0003c0014t0002g0207 a0003c0014t0002g0208	24	88	0.2727	616	c.865 others(635): Show c.865+42524_865+42525insGTACACTAGACTACAGTACACTACGC TAGACTACAGTACACTACGCTAGACTACAGTACACTACGCTAGACTACAC TACACTACACTACATTAGACTACACTACACTACACTAGACTACACTAGAC TACACTAGACTACACTACACTACACTAGACTACACTAGACTACACTACAC TAGACTACACTAGACTAGACTACACTACACTACACTAGACTACACTAGAC TGTACTACACTAGACTACACTGCACTAGACCACTGCACTACACTACAGTA CACTAGACTACACTACACTACAGTACACTAGACTACACTAGACTACACTA CACTACACTACAGTACACTAGACTACACTACACTACACTACAGTACACTA GACTACACTAGACTACACTACACTACACTGGACTACACTATACTAGACTA CACTAGACTGTACTACACTACACTGCACTACACTACAGTACACTAGACTA CACTACACTACACCACACCACACTAGACTACACTATACTACACTACAGTA CACTAGACTATACTACACTATACTAGACTACACTAGACTACACTACACTA GACTACACTACTACACTACACTAGCCTACACTAGCCTACA	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	1/21			chr6	TogoVar
PDE3A_chr12_20363537_20693583	20470460	G G	GTTTGAAC others(609): Show GTTTGAACCTAGAACCACCTGATTACAAAGCTTACATCCTTTAATAGCTA GTCTGGATTACCCCTCATAAAAATTTGCAAATGGTCAGGAAAGTGTGTTA TAATTTACAACACTTTTCCACTTGAAGTATTTTAGACAGGACTAGGGAAC AATGTAAGGATGTAAAAGTGGAGGTGGTAGAGATGGGGTTTATCTCTTTT CTTCTTAAATAATAATCTTGGAATTATGAATCTGTATGCACGAATCTTGA ATAAGCATCAAAATCTTTCTAAAACTTTCACAGTGCAATGCTGTGGGTTG CATTGTGTCCTTTTCCCCACAACCCGAATTGATATGTTGAAGTTCTAATC CCTTATGTGATGGTATTTGGTGAAGGGGCCTTTGGCAGGCAGTTAGGTGT AGATGAGGTCGAGAGAGTGGGCCCTCGTAATGGGATTAGTGTGTTTATAA GAAGAGACACCAGAGAGCTTGAACTCTCTTTCCATGTCCTCACATGTGAG GACACAATAAGAAGGTGTCTGTCTGTAATCCAAGGAGGAAGCCGTCATTA GACACCATCCATGCTGCCACCTAGATCTTGGATTTCAAGTCTCCAGAACT GCGAAACAATAAATTTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0137 a0002c0002t0137	a0002c0002t0137g0051 a0002c0002t0137g0051	1	190	0.0053	616	c.961 others(635): Show c.961-86066_961-86065insACAGGACTAGGGAACAATGTAAGGAT GTAAAAGTGGAGGTGGTAGAGATGGGGTTTATCTCTTTTCTTCTTAAATA ATAATCTTGGAATTATGAATCTGTATGCACGAATCTTGAATAAGCATCAA AATCTTTCTAAAACTTTCACAGTGCAATGCTGTGGGTTGCATTGTGTCCT TTTCCCCACAACCCGAATTGATATGTTGAAGTTCTAATCCCTTATGTGAT GGTATTTGGTGAAGGGGCCTTTGGCAGGCAGTTAGGTGTAGATGAGGTCG AGAGAGTGGGCCCTCGTAATGGGATTAGTGTGTTTATAAGAAGAGACACC AGAGAGCTTGAACTCTCTTTCCATGTCCTCACATGTGAGGACACAATAAG AAGGTGTCTGTCTGTAATCCAAGGAGGAAGCCGTCATTAGACACCATCCA TGCTGCCACCTAGATCTTGGATTTCAAGTCTCCAGAACTGCGAAACAATA AATTTCTTTGAACCTAGAACCACCTGATTACAAAGCTTACATCCTTTAAT AGCTAGTCTGGATTACCCCTCATAAAAATTTGCAAATGGTCAGGAAAGTG TGTTATAATTTACAACACTTTTCCACTTGAAGTATTTTAG	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE3A_chr12_20363537_20693583	20470460	G G	GTTTGAAC others(609): Show GTTTGAACCTAGAACCACCTGATTACAAAGCTTACATCCTTTAATAGCTA GTCTGGATTACCCCTCATAAAAATTTGCAAATGGTCAGGAAAGTGTGTTA TAATTTACAACACTTTTCCACTTGAAGTATTTTAGACAGGACTAGGGAAC AATGTAAGGATGTAAAAGTGGAGGTGGTAGAGATGGGGTTTATCTCTTTT CTTCTTAAATAATAATCTTGGAATTATGAATCTGTATGCACGAATCTTGA ATAAGCATCAAAATCTTTCTAAAACTTTCACAGTGCAATGCTGTGGGTTG CATTGTGTCCTTTTCCCCCCAACCCGAATTGATATGTTGAAGTTCTAATC CCTTATGTGATGGTATTTGGTGAAGGGGCCTTTGGCAGGCAGTTAGGTGT AGATGAGGTCGAGAGAGTGGGCCCTCGTAATGGGATTAGTGTGTTTATAA GAAGAGACACCAGAGAGCTTGAACTCTCTTTCCATGTCCTCACATGTGAG GACACAATAAGAAGGTGTCTGTCTGTAATCCAAGGAGGAAGCCGTCATTA GACACCATCCATGCTGCCACCTAGATCTTGGATTTCAAGTCTCCAGAACT GCGAAACAATAAATTTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02818.hp2 HG02896.hp2 others(3): Show HG02258.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 NA20129.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0009c0015	a0001c0001t0001 a0001c0001t0068 a0001c0001t0084 others(3): Show a0001c0001t0001 a0001c0001t0068 a0001c0001t0084 a0002c0002t0108 a0002c0004t0113 a0009c0015t0008	a0001c0001t0001g0116 a0001c0001t0068g0117 a0001c0001t0084g0089 others(3): Show a0001c0001t0001g0116 a0001c0001t0068g0117 a0001c0001t0084g0089 a0002c0002t0108g0164 a0002c0004t0113g0047 a0009c0015t0008g0059	6	195	0.0308	616	c.961 others(635): Show c.961-86066_961-86065insACAGGACTAGGGAACAATGTAAGGAT GTAAAAGTGGAGGTGGTAGAGATGGGGTTTATCTCTTTTCTTCTTAAATA ATAATCTTGGAATTATGAATCTGTATGCACGAATCTTGAATAAGCATCAA AATCTTTCTAAAACTTTCACAGTGCAATGCTGTGGGTTGCATTGTGTCCT TTTCCCCCCAACCCGAATTGATATGTTGAAGTTCTAATCCCTTATGTGAT GGTATTTGGTGAAGGGGCCTTTGGCAGGCAGTTAGGTGTAGATGAGGTCG AGAGAGTGGGCCCTCGTAATGGGATTAGTGTGTTTATAAGAAGAGACACC AGAGAGCTTGAACTCTCTTTCCATGTCCTCACATGTGAGGACACAATAAG AAGGTGTCTGTCTGTAATCCAAGGAGGAAGCCGTCATTAGACACCATCCA TGCTGCCACCTAGATCTTGGATTTCAAGTCTCCAGAACTGCGAAACAATA AATTTCTTTGAACCTAGAACCACCTGATTACAAAGCTTACATCCTTTAAT AGCTAGTCTGGATTACCCCTCATAAAAATTTGCAAATGGTCAGGAAAGTG TGTTATAATTTACAACACTTTTCCACTTGAAGTATTTTAG	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHG4B_chr5_87168_194966	165942	C C	CCTCTGAC others(609): Show CCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCAC AGTAATCCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCAGG GCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGG GGCGGAGCTCACACTAATGCTCTGACGGGACGGGGCTCACACTAATGCTC TGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACACTA ATGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGGGCTC ACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCG GGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGAC GGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATCC TCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACAC TAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGC TCACAGTAATCTTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGG CGGAGCTCACACTAATG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19066.hp2 NA19088.hp1 NA18979.hp2 NA19066.hp2 NA19088.hp1	a0003 a0003	a0003c0004 a0003c0017 a0003c0004 a0003c0017	a0003c0004t0004 a0003c0017t0004 a0003c0004t0004 a0003c0017t0004	a0003c0004t0004g0085 a0003c0004t0004g0132 a0003c0017t0004g0108 a0003c0004t0004g0085 a0003c0004t0004g0132 a0003c0017t0004g0108	3	165	0.0182	616	c.347 others(635): Show c.3477-2796_3477-2795insAGCTCACACTAATGCTCTGACGGGGC GGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGA CGGGGCGGGGCTCACACTAATGCTCTGACGGGGCAGGGCTCACACTAATG CTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACA CTAATGCTCTGACGGGACGGGGCTCACACTAATGCTCTGACGGGGCGGGG CTCACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGG GCGGGGCTCACAGTAATCCTCTGACGGGGCGGGGCTCACACTAATGCTCT GACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAA TCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCA CACTAATGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGG AGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACG GGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATCTT CTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLXNB2_chr22_50269979_50312646	50285737	G G	GCCGGCAC others(609): Show GCCGGCACCCCTCCCTCCGCACCTTAGCCTGCCTGTCACCGGCCGGCACC CCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCCTCCCTC CGTACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGA GCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTTAGCCTGCCTG TCACCGGCCGGCACCCCTCCCTCCGCACCTTAGCCTGCCTGTCACCGGCC GGCACCCCTCCCTCCGCACCTTAGCCTGCCTGTCACCGGCCGGCACCCCT CCCTCCGCACCTTAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCA CCTTAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCT GCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCAC CGGCCGGCACCCCTCCCTCCGCACCTTAGCCTGCCTGTCACCGGCCGGCA CCCCTCCCTCCGCACCTTAGCCTGCCTGTCACCGGCCGGCACCCCTCCCT CCGCACCTGAGCCTGCCTGTCACCGGCCGGCACCCCTCCCTCCGCACCTT AGCCTGCCTGTCACCAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0004 a0004	a0004c0026 a0004c0026	a0004c0026t0003 a0004c0026t0003	a0004c0026t0003g0123 a0004c0026t0003g0123	1	297	0.0034	616	c.208 others(631): Show c.2088+62_2088+63insTTGGTGACAGGCAGGCTAAGGTGCGGAGGG AGGGGTGCCGGCCGGTGACAGGCAGGCTCAGGTGCGGAGGGAGGGGTGCC GGCCGGTGACAGGCAGGCTAAGGTGCGGAGGGAGGGGTGCCGGCCGGTGA CAGGCAGGCTAAGGTGCGGAGGGAGGGGTGCCGGCCGGTGACAGGCAGGC TCAGGTGCGGAGGGAGGGGTGCCGGCCGGTGACAGGCAGGCTCAGGTGCG GAGGGAGGGGTGCCGGCCGGTGACAGGCAGGCTAAGGTGCGGAGGGAGGG GTGCCGGCCGGTGACAGGCAGGCTAAGGTGCGGAGGGAGGGGTGCCGGCC GGTGACAGGCAGGCTAAGGTGCGGAGGGAGGGGTGCCGGCCGGTGACAGG CAGGCTAAGGTGCGGAGGGAGGGGTGCCGGCCGGTGACAGGCAGGCTAAG GTGCGGAGGGAGGGGTGCCGGCCGGTGACAGGCAGGCTCAGGTGCGGAGG GAGGGGTGCCGGCCGGTGACAGGCAGGCTCAGGTACGGAGGGAGGGGGTG CCGGCCGGTGACAGGCAGGCTCAGGTGCGGAGGGAGGGGTGCCGGCCGGT GACAGGCAGGCTAAGGTGCGGAGGGAGGGGTGCCGG	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	11/36			chr22	TogoVar
PPP1R12C_chr19_55085918_55122637	55097369	T T	TCACCACC others(609): Show TCACCACCGTCTTCACCCCTTCCCCGCAGTTCACCACCGTCTTCGCCCCT TCTCCGCGCAGTTCACCACCGTCTTCACACCTTCCCCGCGCAGTTCACCA CCGTCTTCACCCCTACCCCGCGCAGTTCGCAGTTCACCACCGTCTTCACC CCTTCCCCACGCAGTTCACCACCGTCTTCACCCCTTCCCTGCAGTTCACC ACCGTCTTCACCCCTTCTCCGCGCAGTTCACCGTCTTCACACCTTCCCCG CGCAGTTCACCACCGTCTTCGCCCCTTCCCCGCGCAGTTCACCACCGTCT TCGCCCCTTCTCCGCGCAGTTCACCACCGTCTTCACCCCTTCCCCGCAGT TCACCACCGTCTTCACCCCTACCCCGCGCAGTTCGCAGTTCACCACCGTC TTCACCCCTTCCCCACGCAGTTCACCACCGTCTTCACCCCTTCCCTGCAG TTCACCACCGTCTTCACCCCTTCTCCGCGCAGTTCACCGTCTTCACACCT TCCCCGCGCAGTTCACCACCGTCTTCACCCCTACCCCGCGCAGTTCGCAG TTCACCACCGTCTTCACCCCTTCCCCACGCAGTTCACCACCGTCTTCACC CCTTCCCTGCAGTTCAC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	339	0.0029	616	c.952 others(633): Show c.952-1035_952-1034insGTGAACTGCAGGGAAGGGGTGAAGACGG TGGTGAACTGCGTGGGGAAGGGGTGAAGACGGTGGTGAACTGCGAACTGC GCGGGGTAGGGGTGAAGACGGTGGTGAACTGCGCGGGGAAGGTGTGAAGA CGGTGAACTGCGCGGAGAAGGGGTGAAGACGGTGGTGAACTGCAGGGAAG GGGTGAAGACGGTGGTGAACTGCGTGGGGAAGGGGTGAAGACGGTGGTGA ACTGCGAACTGCGCGGGGTAGGGGTGAAGACGGTGGTGAACTGCGGGGAA GGGGTGAAGACGGTGGTGAACTGCGCGGAGAAGGGGCGAAGACGGTGGTG AACTGCGCGGGGAAGGGGCGAAGACGGTGGTGAACTGCGCGGGGAAGGTG TGAAGACGGTGAACTGCGCGGAGAAGGGGTGAAGACGGTGGTGAACTGCA GGGAAGGGGTGAAGACGGTGGTGAACTGCGTGGGGAAGGGGTGAAGACGG TGGTGAACTGCGAACTGCGCGGGGTAGGGGTGAAGACGGTGGTGAACTGC GCGGGGAAGGTGTGAAGACGGTGGTGAACTGCGCGGAGAAGGGGCGAAGA CGGTGGTGAACTGCGGGGAAGGGGTGAAGACGGTGGTG	PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	6/21			chr19	TogoVar
PRSS33_chr16_2778953_2792560	2787233	C C	CCCCTGTC others(609): Show CCCCTGTCTCATCCTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCATC CTCACTCCTCTCTCATCACCCCTCCTCCATCCTTCACCCCCCCATCGTCA CCCCCTCCCTCATCCTCACCCCCTTTCTCCTCACTCCCCTCCCTCATCCT CACCCCCTCCCCCATCCTTCACCCCTCCTCGTCCTCACCCTCATCCTCAC CCCCTCCTCTATCCTCACCCCCTCCTCCATCCTCAGCCCCCTCCTCCTCA CTCCCCTCCCTCATCCTCACCCCTGTCTCATCCTCACCCCCTCCCCCATC CTTCACCCCCTCCCTCATCCTTCACCCCCTCCCCCATCCTTCACCCCCTC CCCCATCCTTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCATCCTTCA CCCCCTCCCTCATCCTCACTCCTCTCTCATCACCCCTCCTCCATCCTTCA CCCCCCCATCGTCACCCCCCTCCCTCATCCTCACCCCCTTTCTCCTCACT CCCCTCCCTCATCCTCACCCCCTCCCCCATCCTTCACCCCTCCTCGTCCT CACCCTCATCCTCACCCCCTCCTCTATCCTCACCCCCTCCTCCATCCTCA GCCCCCTCCTCCTCACT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	1	331	0.0030	616	c.-58 others(631): Show c.-58+299_-58+300insAGTGAGGAGGAGGGGGCTGAGGATGGAGGA GGGGGTGAGGATAGAGGAGGGGGTGAGGATGAGGGTGAGGACGAGGAGGG GTGAAGGATGGGGGAGGGGGTGAGGATGAGGGAGGGGAGTGAGGAGAAAG GGGGTGAGGATGAGGGAGGGGGGTGACGATGGGGGGGTGAAGGATGGAGG AGGGGTGATGAGAGAGGAGTGAGGATGAGGGAGGGGGTGAAGGATGAGGG AGGGGGTGAAGGATGAGGGAGGGGGTGAAGGATGGGGGAGGGGGTGAAGG ATGGGGGAGGGGGTGAAGGATGAGGGAGGGGGTGAAGGATGGGGGAGGGG GTGAGGATGAGACAGGGGTGAGGATGAGGGAGGGGAGTGAGGAGGAGGGG GCTGAGGATGGAGGAGGGGGTGAGGATAGAGGAGGGGGTGAGGATGAGGG TGAGGACGAGGAGGGGTGAAGGATGGGGGAGGGGGTGAGGATGAGGGAGG GGAGTGAGGAGAAAGGGGGTGAGGATGAGGGAGGGGGTGACGATGGGGGG GTGAAGGATGGAGGAGGGGTGATGAGAGAGGAGTGAGGATGAGGGAGGGG GTGAAGGATGAGGGAGGGGGTGAGGATGAGACAGGG	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PTPRT_chr20_42067756_43194906	43095827	A A	ACCCTCCT others(609): Show ACCCTCCTTCTCTCTCCCGTCTCTCTTCTCTCCTCTTCTCTCTCCACCCT CCCTCTCTTTTCCCCTCTCCCACCTCTCTCCTCCCCCACCCACCTTCTGT CACTCCCTCTCCCTCTCTCTCCTGTCTCTCTTCTCTCTCTCCTTCTCTCT CTGCCCTCTCCCTCTCTTTTCCTCTCTCTCCCACACTTCTCTCCTCCCCC CTTTCTCTCCCCCACCCACCTTCTCTCTCTCTCCCTCTCTCTCTTCTCTC TTTCCACCCTCCCTCTCTCTTTCCACCCTCCCTCTCTTTTTCCCTTCTCT CTCCCTACCACCTCTCGCCTCCCTCTTTCTCTTCCCCAACCACCTCTCTC TCTCTTCCTCACTCTCCTCTCTTCTCTCTTTCCACCCTCCCTCTCTTCCC CTCTCTCCCCACCTCTCTCCTCCTTCTCTTTCTCTCCTCCCACCCACTTG CTCTCTCCCTCCCTGTCTCCCTTCCCTTTCCCTCTCCCTCTCCCTCTCTC TCTCTCCTTCTCTCTTTCCACCCTCCCTCTCTTCCCCTCTCTGTCCCCAC CTCTCTCCTCCCCCTCTTTCTCTCCTCCCACACGCCTGCTCTCTCCCTCC CTCTCTCCCTTCCCTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02965.hp1 HG02976.hp2 HG02809.hp1 HG02965.hp1 HG02976.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0009c0019 a0001c0002 a0009c0019	a0001c0002t0006 a0001c0002t0023 a0009c0019t0008 a0001c0002t0006 a0001c0002t0023 a0009c0019t0008	a0001c0002t0006g0039 a0001c0002t0023g0044 a0009c0019t0008g0050 a0001c0002t0006g0039 a0001c0002t0023g0044 a0009c0019t0008g0050	3	13	0.2308	616	c.88+ others(633): Show c.88+93818_88+93819insAAAGGGAAGGGAGAGAGGGAGGGAGAGA GCAGGCGTGTGGGAGGAGAGAAAGAGGGGGAGGAGAGAGGTGGGGACAGA GAGGGGAAGAGAGGGAGGGTGGAAAGAGAGAAGGAGAGAGAGAGAGGGAG AGGGAGAGGGAAAGGGAAGGGAGACAGGGAGGGAGAGAGCAAGTGGGTGG GAGGAGAGAAAGAGAAGGAGGAGAGAGGTGGGGAGAGAGGGGAAGAGAGG GAGGGTGGAAAGAGAGAAGAGAGGAGAGTGAGGAAGAGAGAGAGAGGTGG TTGGGGAAGAGAAAGAGGGAGGCGAGAGGTGGTAGGGAGAGAGAAGGGAA AAAGAGAGGGAGGGTGGAAAGAGAGAGGGAGGGTGGAAAGAGAGAAGAGA GAGAGGGAGAGAGAGAGAAGGTGGGTGGGGGAGAGAAAGGGGGGAGGAGA GAAGTGTGGGAGAGAGAGGAAAAGAGAGGGAGAGGGCAGAGAGAGAAGGA GAGAGAGAAGAGAGACAGGAGAGAGAGGGAGAGGGAGTGACAGAAGGTGG GTGGGGGAGGAGAGAGGTGGGAGAGGGGAAAAGAGAGGGAGGGTGGAGAG AGAAGAGGAGAGAAGAGAGACGGGAGAGAGAAGGAGGG	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
QSOX2_chr9_136201333_136250812	136234723	G G	GGCTTGGG others(609): Show GGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCC CGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGTCTC CACAAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCCACA CCCCAGCTTGGGAGCAAGGCTGGTCTCCACAAGGCCCCCCAGCTCCACTG CGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGG TCTCCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGC CACACCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCC ACTGCGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGG CTGGTCTCCACAAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATC GCGCCACACCCCAGCTTGGGAGCAAGGCTGGTCTCCACAAGGCCCCCCAG CTCCACTGCGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGC AAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCT CATCGCGCCACACCCCA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	140	0.0071	616	c.329 others(633): Show c.329-7850_329-7849insTGGGGTGTGGCGCGATGAGGCTGGGGCG GGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGCT GGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCT TGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGG GGCGGGCGCAGTGGAGCTGGGGGGCCTTGTGGAGACCAGCCTTGCTCCCA AGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGG GCCTCGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGG CTGGGGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCT CCCAAGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTG GGGGGCCTTGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGAT GAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCTTGTGGAGACCAGCCT TGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGA GCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
RAB11FIP3_chr16_420649_528011	467502	G G	GCCTCAGG others(609): Show GCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCA GGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCGGGGGCGTCAGGGAGG AGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGC TGGGACGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGAC GTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCGGGGGCGTCAGG GAGGAGGTGCGGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAG GGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCCT CAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCCTCAGGGA GGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGT GCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCA GGGAGGAGGTGCTGGGA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0078 a0001c0001t0041g0078	1	294	0.0034	616	c.809 others(633): Show c.809-3792_809-3791insCTCAGGGAGGAGGTGCTGGGGCCTCAGG GAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAG GTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCCT CAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGA GGAGGTGCGGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGAGGAGGT GCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGG GCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCA GGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGG AGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGC TGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGC GTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGG GAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGAC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	467548	C C	CTCAGGGA others(609): Show CTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGG GAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCGGGGGCGTCAGGGAGGAG GTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTG GGACGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGT CAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCGGGGGCGTCAGGGA GGAGGTGCGGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGT GCAGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCA GGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGG AGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGC AGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGC GTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGG GAGGAGGTGCTGGGACG	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0050 a0001c0001t0049g0050	1	289	0.0035	616	c.809 others(633): Show c.809-3728_809-3727insGCCTCAGGGAGGAGGTGCTGGGACGTCA GGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCGGGGGCGTCAGGGAGG AGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGC TGGGACGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGAC GTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCGGGGGCGTCAGG GAGGAGGTGCGGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAG GGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCCT CAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCCTCAGGGA GGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGT GCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCA GGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCTGGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492360	T T	TCCTCCCG others(609): Show TCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGG CCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGG GAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCG AGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0105 a0001c0001t0005g0105	1	234	0.0043	616	c.126 others(635): Show c.1265+3361_1265+3362insCTCCCGGGAGACCCGAGGCCGTCCAG AGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCG AGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	504453	C C	CCCCCTCA others(609): Show CCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCC TCCTGTACCCCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCC TCACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGT ACCCCCCTCACCTCTTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCAT CTCCTCCTGTACCCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTACC CCCTCACCTCCTCCTGTACCCCCCTCACCTCTTCCTGTACCACCTCCTCC TGTACCCCCTCACCTCCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCA CCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCCTCACCTCCTCCTGTA CCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCT CCTTGTGCACCCCCTCACCTCCTCCTATACCCCCTCACCTCCTCCTGTAC CCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCT CCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCC CTCACCTCCTTGTGCAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0187 a0001c0002t0002g0187	1	186	0.0054	616	c.139 others(635): Show c.1396-1068_1396-1067insCTCACCTCCTGTACCCCCTCACCTCC TCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGCACTC CCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGT ACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCTTCCTGTACCCGCCTC ACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCCTCACCTCCTTGTG CACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCT CTTCCTGTACCACCTCCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCC TTGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTAC CCCCCTCACCTCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCT CCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTCCTATAC CCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCT CCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCC CTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCAACCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RPEL1_chr10_103240887_103253016	103251039	C C	CACCACCC others(609): Show CACCACCCCACCACCACACCACCTCCACCACACACCACCACCACACCACC TCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACTCCA CCCCATCACCACCTCCACCATCATCACCACCTCCACCATCACCACCTCCA ACACCACCACCACCACCATCACCACCTCCACCACCATCACCACCTCCACC ATCACCACCACCACCATCACCACCACCACCACCATCACCACCTCCAACAC CACCTCCACCACCATCACCACCACCACCACCACCATCACCACCATCACCA CCTCCACCACCATCACCACCACCTCCACCACCACCACCACCACTAACACC ACCACCACTACCATCACCACCACCACCACCACCATCACCACCTCCACCAT CATCACCACCTCCACCATCACCACCTCCAACACCACCACCACCACCATCA CCACCTCCACCACCATCACCACCACCATCACCACCTCCACCATCACCACC ACCACCATCACCAACACCACCACCATCACCAACACCACCACCACCACCAC CACCTCCACCACCATCACCACCACCACCACCATGACGACCACCACCACCA TCACCACCTCCACCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	1	374	0.0027	616	c.43 others(627): Show c.4356_*4357insACCACCCCACCACCACACCACCTCCACCACACAC CACCACCACACCACCTCACCACCATCACCACCACCACCACCACCACCACC ACCACCACCACTCCACCCCATCACCACCTCCACCATCATCACCACCTCCA CCATCACCACCTCCAACACCACCACCACCACCATCACCACCTCCACCACC ATCACCACCTCCACCATCACCACCACCACCATCACCACCACCACCACCAT CACCACCTCCAACACCACCTCCACCACCATCACCACCACCACCACCACCA TCACCACCATCACCACCTCCACCACCATCACCACCACCTCCACCACCACC ACCACCACTAACACCACCACCACTACCATCACCACCACCACCACCACCAT CACCACCTCCACCATCATCACCACCTCCACCATCACCACCTCCAACACCA CCACCACCACCATCACCACCTCCACCACCATCACCACCACCATCACCACC TCCACCATCACCACCACCACCATCACCAACACCACCACCATCACCAACAC CACCACCACCACCACCACCTCCACCACCATCACCACCACCACCACCATGA CGACCACCACCACCATCACCACCTCCACCACT	RPEL1	ENSG00000235376.5	transcript	ENST00000441178.2	protein_coding		3024		chr10	TogoVar
RPH3AL_chr17_207389_357807	273544	T T	TGACGTCA others(609): Show TGACGTCAGGGTGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAG CGAGGGTGACGTCAGGGTGAGACCCCAGCGAGGGTGACGTCAGGGAGAGA CCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACTTCAGG GTGAGACCCCAGCGAGGGTGACTTCAGGGAGAGACCCCAGCGAGGGTGAC GTCAGGGAGAGACCCCAGCGCGGGTGACTTCAGGGTGAGACCCCAGCGAG GGCGACGTCAGGGAGAGACCCCAGCAAGGGTGATGTCAGGGAGAGACCCC AGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGA GACCCCAGCGAGGGTGACTTCAGGGTGAGACCCCAGCGAGGGTGACTTCA GGGTGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCAAGGGTG ATGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCG AGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACC CCAGCGCGGGTGACTTCAGGGTGAGACCCCAGCGAGGGTGACTTCAGGGT GAGACCCCAGCGAGGGC	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0014 a0001c0004t0004g0014	1	58	0.0172	616	c.438 others(633): Show c.438+8223_438+8224insGCCCTCGCTGGGGTCTCACCCTGAAGTC ACCCTCGCTGGGGTCTCACCCTGAAGTCACCCGCGCTGGGGTCTCTCCCT GACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCT CTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACATCACCCTTGCTG GGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCACCCTGAAGTCACCC TCGCTGGGGTCTCACCCTGAAGTCACCCTCGCTGGGGTCTCTCCCTGACG TCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCC CTGACATCACCCTTGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGT CTCACCCTGAAGTCACCCGCGCTGGGGTCTCTCCCTGACGTCACCCTCGC TGGGGTCTCTCCCTGAAGTCACCCTCGCTGGGGTCTCACCCTGAAGTCAC CCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGA CGTCACCCTCGCTGGGGTCTCACCCTGACGTCACCCTCGCTGGGGTCTCT CCCTGACGTCGCCCTCGCTGGGGTCTCACCCTGACGTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar

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