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
C7orf50_chr7_992006_1143247	1128439	CATCTCGG others(831): Show CATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATC TCGGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGG CTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA TCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCTC ACCGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCG TCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCCTGTC ACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCGCACCCTGTCAC CCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCC GGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCATCACCCGGGC TGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGCTG GAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGA GTGCAGTGGCACGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGC AGTGGCGCCATCTCGGCTCATCCCACCATCACCCGGGCTGGAGTGCAGTG GCGCCATCTCGGCTCATCCCACCGTCACCTGGGCTGGAGTGCAGTGGCGC GATCTCAGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATC TCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGG CTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCGCG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03098.hp2 HG03927.hp2 HG02280.hp1 HG03098.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010	a0001c0001t0004g0191 a0001c0001t0007g0118 a0001c0001t0010g0119 a0001c0001t0004g0191 a0001c0001t0007g0118 a0001c0001t0010g0119	3	245	0.0122	-838	c.-1- others(15): Show c.-1-1891_-1-1054del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
FANCA_chr16_89732549_89821647	89781478	CCTGGATA others(831): Show CCTGGATAACATGGTGAAACCCCATCTCTACTAAAAAAATACAAAAAAAT TAGCTGGGTGTGGTGGCAGGTGCCTGTAGTCTGAGCTACTGGAGAGGCTG AGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTAAGCTGAG ATCGCACCACTGCACTCCAGCCAGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAGTAAAAAGTAAAGAATGTTTTCATTAGGCCGGCCAT GGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGACGGGCGGA TCACGAGGTCAGGAGATCGAGACCATACTGGCTAACGTGGTGAAACCTCA TCTCTACTAAAAATATACAAAAAATTAGCCAGGCGTGGTGGCAGGCATCT GTAGGCCCACTATAGGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGACTGCGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAGAATGTTTT CATTAGTGACCCACACATATCACATGACCATCTGACATTTGGCTGCTATA AAAACAGTTAACACTTGGCCAGGAGCAGTGGCTCACACCTATAATCCCAG CACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAAGAGATCGAGATC ATCCTGGCTAACACGGTGAAACCTCGTCTCTACTAAAAAAAATTAAAAAA TTAGCCAGGCGTGGTGGCGGGCGCCTGTAATCCCAGCACTTTGAGAGGCC AAGGCGGGCGGATCACAAGGTCAGGAGATTGAGACCATT	C C	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	331	0.0030	-838	c.162 others(18): Show c.1626+543_1626+1380del	FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding	17/42			chr16	TogoVar
RBM23_chr14_22888204_22924149	22902625	TGCAAAAT others(831): Show TGCAAAATTTTATTATTGTAGGAAACCTAGCCTGACAAGTTATTTCACAA ATGGGTATATCAAATGGAAGACAAGCTAAGAACAAGGCTCCTGGGCTTTT AATTCAGTTCTCTATCCTAGTAAGTTTTAGTCTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCCCACTCTGTCACTCTGTCACTGAGGCTAG AGTGCAGTGGCACCATGTCAGCTCACTACAACCTCCATCTCCTGGGTTCA AGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCCA CCACCATGCCCAGCTAGTTTTTTTATTTTTATTTTTTAGTAGAGATGGGG TTTCACCACGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGCGATTC ACCCACCTTGGCCTCCCAAACTGCTGGGATTACAGGTGTGAGCCACCGCG CCTGGCCAAATTTTAGTTAAGTACTAGGAATCTGGAACTCCTAATTCCAG GCTTAAGAGGGAACACACCCTAGTGCTGACAGCAAGGCAGAACCCACACC CCCACATACACACAAGAGCTGTTGACTAAGTGACCTGCTGACCAGAAGGC CTTTACTCTCTAGTCCCTTTTATCAGCAGCACCCAGCAACACACTGGTAC AAAGAGGATTCCCAGTCTGCTGTTTGTTTAAGTGTCAAGGTTGTTGACCC AAAAGGCAACAATGCAAGGGCAAAAATGCCCCACAGAAGCCTTTCCATAT CTCAGTCACACAGAGAGCGAGAAAAGGTTACAAAAGTTACTTGCCACCAC AGAATTGTCAACACCACAGCTAGCTTGTTTAGCTAGCTA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0026 a0001c0005t0026	a0001c0005t0026g0245 a0001c0005t0026g0245	1	360	0.0028	-838	c.930 others(15): Show c.930+798_931-244del	RBM23	ENSG00000100461.18	transcript	ENST00000359890.8	protein_coding	10/13			chr14	TogoVar
SGK1_chr6_134164256_134323112	134282514	ATGGTGGC others(831): Show ATGGTGGCGCACACCTGTAATTCCAGCTACTCGGGAGTCTGAGGCAGGAG AATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACACCA CCGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAAA TAAAATAAAAGAGTTTATCTTTGGTAATTTGGGTGGTCCTTATCTAATCA ATTGAAAAGCATTAAGAGTAAAGCTGAGGTTTTCCTGAGGAATAATAAAT TATGCCTCAAGACTGCAGCCTAAGACTTCTGGCCTGCCCCACAGATTTCA GACTTGCCATCTCCACAGCTGCATGAGCCAATTCATTGAAATAAATCTCT TCATATATATCATCTAATGATTCTATTTCTCTGGAGAACCCTAACTGATA CAGAGATCACACTAGAAAGATAGAGATAAAAACTCAGAAAGGCCAGGACA ACAGTTTTTGAATATTTGAATAGCTGCTATGTGAAAGATGAGCCAATGGA TGGCGGTAATGGGAAGACATATTTGGGCTTCCCATGTACCAAAACTTAAA TGTGTCTTTTGTTTAAAGAAGGCAGCTGAGCCGGTCCAAGTGCAATGGTG TTTACAACTGATTGATCACAACCAATTACAGATTTCTTTGTTCCTTCTCC ACTCCCGCTGCTTCACCTAACTAGCCTTAAACATACATATATACAGGCTG GGTGCGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGCGG GTAGATCACTTGAGGTCAGGAGTTCAAGATCAGCCTGGCCAACATGGTGA AACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG06807.hp1 HG03139.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0228 a0001c0001t0005g0230 a0001c0001t0002g0228 a0001c0001t0005g0230	2	248	0.0081	-838	c.70- others(17): Show c.70-21204_70-20367del	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	1/13			chr6	TogoVar
SULT1C3_chr2_108234968_108265886	108238974	TTCCTAAA others(831): Show TTCCTAAAACCAGGTTGCCAGATAATGGAGAACACAGCCATATGGCTTCA AAGTCATGCCCTAAGGCTCTGTGTTTTAGTGCTCAATCATCAGGAACAAA AGTTCAGAAAGAGATTAAAAAGCAATGACTTTGTCTCAAAAGTATAACTG AAATTGAAGATTAGGAATGGTCTCTGGGAGTCTTGCAAAACAGAGGACAG ACAATGTAAATATATGGAATTTTAACAATGAACTCTGTACAATATTTACT TAACTCCAGTATACTGAGTGTTACTATGTATAATAAAAAGAGTAAAATCA ATAATTAGATCATCTCAACAGATGGAAATTTTACTAAGCACCAGGTGAGG AGTGCAAGATCAGAAGCTCTGGAGACTGTTCTCCCCTGCCCACACCCACT GACAACCACAGTGTGTCCCACTGCATCCACTAACCCCGACATTCTTGCCC TGAAATACACACACACACACACACACACACACACACACACACACACACAG AGGGGGACATGGAGGTTTCATGGTTTTATTACAGGCCTTGTGGTTTCCTA AAATGAACTTTCTTCTACACCAATTTTAACTACGGATTCAGTAAAGAGGC AATAGAATATATTTTCTACAGGGTCAAAGGGAACAGGATGAAATAATTGT GCAAGTTCCTGTCCTGAGAGCTGGTCTGGGAAGACCTTCAGTATAAATAT GGGCTCCCTGGGATAATTAATGAATTATTGGTTTGTATTCCCTCATGTTG GACCTGTTCATTTACATTCTGAGTAGCTGGTATCAAAAAGGGAGCAGCGA CCCTCAACTTTGTGGTATCTGCAGAGAGCCAAGCCAGGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(79): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00609.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01943.hp1 HG02055.hp1 HG02056.hp2 HG02145.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03492.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18955.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18989.hp2 NA18990.hp1 NA19009.hp2 NA19057.hp2 NA19070.hp1 NA19087.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0003 a0004 a0005 others(5): Show a0003 a0004 a0005 a0006 a0007 a0008 a0016 a0019	a0003c0002 a0003c0027 a0004c0005 others(7): Show a0003c0002 a0003c0027 a0004c0005 a0005c0008 a0006c0006 a0006c0018 a0007c0007 a0008c0013 a0016c0017 a0019c0023	a0003c0002t0004 a0003c0027t0004 a0004c0005t0001 others(8): Show a0003c0002t0004 a0003c0027t0004 a0004c0005t0001 a0005c0008t0004 a0006c0006t0001 a0006c0006t0005 a0006c0018t0001 a0007c0007t0001 a0008c0013t0001 a0016c0017t0004 a0019c0023t0001	a0003c0002t0004g0002 a0003c0002t0004g0009 a0003c0002t0004g0014 others(38): Show a0003c0002t0004g0002 a0003c0002t0004g0009 a0003c0002t0004g0014 a0003c0002t0004g0032 a0003c0002t0004g0048 a0003c0002t0004g0052 a0003c0002t0004g0111 a0003c0002t0004g0135 a0003c0002t0004g0136 a0003c0002t0004g0137 a0003c0002t0004g0138 a0003c0002t0004g0139 a0003c0002t0004g0140 a0003c0002t0004g0141 a0003c0002t0004g0142 a0003c0002t0004g0144 a0003c0002t0004g0149 a0003c0027t0004g0009 a0004c0005t0001g0023 a0004c0005t0001g0043 a0004c0005t0001g0044 a0004c0005t0001g0045 a0004c0005t0001g0093 a0004c0005t0001g0096 a0004c0005t0001g0097 a0004c0005t0001g0099 a0004c0005t0001g0105 a0004c0005t0001g0106 a0004c0005t0001g0107 a0004c0005t0001g0148 a0005c0008t0004g0002 a0006c0006t0001g0017 a0006c0006t0005g0146 a0006c0018t0001g0145 a0007c0007t0001g0098 a0008c0013t0001g0101 a0008c0013t0001g0102 a0008c0013t0001g0103 a0008c0013t0001g0104 a0016c0017t0004g0002 a0019c0023t0001g0100	82	374	0.2193	-838	c.-11 others(10): Show c.-1116_-279del	SULT1C3	ENSG00000196228.5	transcript	ENST00000681802.2	protein_coding		993		chr2	TogoVar
TRAPPC9_chr8_139722725_140462744	140442491	GGGAGGCT others(831): Show GGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGGGAGGCGGAGCTTGCAG TGAGCTAAGATTGCACCACTGCACTCCAACCTGGTCGACAGAGCGAGCCT CTGTCAAAAAAAAAAAAAAAAGAAGAAAATGCTTAATATTTTTCTGATTT TGGTACTATTTATATGGCTTATGGAAAACAAGAGCTTGGTATTCTAGTCC AAAAAACAATTTATCTGGCAAATAAATTTCTACATTCAAATCCAAAGAAA AGCTAAAGCTGCTCAACAACAACAGTTTGCAATTAAAATCCAAGGGAACC TGGATAGAGAGAATCTCTTTTGCAGGGTCGGGGATGGTATTACACAGTTT AAGAAGTCTTTGGGCCTGGCGAGGTGGCTCATGCCTGTAATCCCAGCACT ATGGGAGGCCGAGGCAGGCGGATCACAAAGTTAAGAGATAGAGACCATCC TGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAGAATTAGCTG GGCATGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAG GAGAATCGCTTGAACCCGGAAGGCAGAGGTTGCAGTGAGCTGAGATGGCA CCACTGCACTCTGGCCTGGCAACGGAGCGAGACTCCATCTCAAAAAAAAA AAAAAAAAAAAAAAGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCAC TTTGGGAGGCCAAGGCGGGCAGATCACAAAGTCAGGAGATCGAGACCATC CTGGCTAACATGATGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAG CCAGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTAATCA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0028 a0001c0004t0028	a0001c0004t0028g0098 a0001c0004t0028g0098	1	96	0.0104	-838	c.585 others(17): Show c.585-4132_585-3295del	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	2/22			chr8	TogoVar
ZFP1_chr16_75143524_75177234	75146445	GCGTGAGC others(831): Show GCGTGAGCCACTGCACCCGGCCGCAACCATACGATTTACCCAAATGAACT GGAAACTTATATCCTCACAAAACCTGAACACAGATGTTTAGAGCAGCTTT ATTCATAGTTGCCAAAACTTAGAAGCAACCAATGTATCTTCAGTAGGTGA ATGGATTTAAAACACTGGTACATGCAGACAGTAGAATATTATGCAGCACT AAAACGAACTGAGGCTGGGCACAGTGGCTCATCCCTATAATCCCCGCACT TTGGGAGGCCAAGGCAGGAGGATTTCTTGATCCCAGGAGTTTGAGACGAG CCTGGGCAACATGGCAAAATGCCATCTCTACAAAAAATACAAAAAATTAC CCAGGCATGGCTGTGTATGCCTGTAGTTTTAGCTACTTGGGAGGCTGAAC TGGGAGGGTCACTTGAGCCCAGGAAGTGGAGGCTGCAGTGAGCCATGATC GCACCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCTGTGTCAAAAA AAAAAAAAAAAAAAAAAAGCCAGGGTAACTTGAGGGAAACATGAGGGAAA CTTAAATGTATATTACTAAATGAAAGAAGCCAATCTGAAAAAGCAACATA TGTATGATTCCACCTATATGACAACCTGCAAAAGGCAAAACTATGGAGAC AGTAAAAATATCAGAGATTTCCAGGGGTTGTGGGATGGATGAATAAATGG AGCACAGATGATTTTTTGGGGGGCAGTGAAACTATTCTGTACGATACTGT AATGGTTACAGGCATTTGTCAAGACCCATAGAATGTACAACATCAAGTGA ACACTAATGTAAGCTATGGACTTTGGGTGCCAATGATTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0005 a0001c0001t0007g0005	1	362	0.0028	-838	c.-22 others(11): Show c.-2241_-1404del	ZFP1	ENSG00000184517.12	transcript	ENST00000570010.6	protein_coding		2078		chr16	TogoVar
ZNF516_chr18_76352682_76500242	76393033	GGTCAGGT others(831): Show GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAG GGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGT CAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTA	G G	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	343	0.0029	-838	c.181 others(21): Show c.1811-13568_1811-12731del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
BANP_chr16_87946434_88082316	88053453	TCATCATC others(830): Show TCATCATCATCACCAACACAACCACCTTCACCACCACCTCTACTGTCATC TCCATCATCATCACCAGCACAACCACAACCACCTTAACAAACACTACCAC CACCACCTCCACCATCATCTCCATCATCATCATCATCACCAACACAACCA CCCTAACGACTACCACCCCCACCTCCTTCACTATCATCACCATCACCAAC ACAGTCACCTTCACCACCACCACCACCACCTCTACCACTGTCATCTCCAT CATCATCATCACCAACACAACCACCTTCACCACCACCTCTACTGTCATCT CCATCATCATCACCAACACAGCCACCCTAACAACCACTACCACCACCACC TCTACTATCTCCATCATCACCAACACAACCACCTTAACAACCACTACCAC CCCCACCTCCTTCACTATCATCACCATCACCAACACAGTCCCCTTCACCA CCACCACCACCTCTACCACTGTCATCTCCATCATCATCACCAACACAACC ACCCTAACAGCCACTCCCACCTCCTTCACTATCATCACCATCACCAACAC AACCACCTTTACCACCACCACCACCTCTACCACTGTCATCTCCATCATCA TCATCACCAACACAACCACCTTCACCACCACCTCTACTGTCATCTCCATC ATCATCACCAGCACAACCACAACCACCTTAACAAACACTACCACCACCAC CTCCACCATCATCTCCATCATCATCATCATCACCAACACAACCACCCTAA CGACTACCACCCCCACCTCCTTCACTATCATCACCATCACCAACACAGTC ACCTTCACCACCACCACCACCTCTACCACTGTCATCTC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03098.hp2 HG00639.hp2 HG03098.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0160 a0001c0012t0001g0161 a0001c0012t0001g0160 a0001c0012t0001g0161	2	350	0.0057	-837	c.131 others(21): Show c.1312-11780_1312-10944del	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
FBXL17_chr5_107854035_108387098	107862783	AGATCAGG others(830): Show AGATCAGGACCACTAGGAAAAACCTGAAACAACATCAAACCCTTGCTGTT TGCTTTGAAAGCCTGCTTAGAAGTATGATGATCATGAAATTCAGCTATCT GCACTTTTCTGAAATAGCATGATGTTTTCTAAGTGATCTAGAAAACTATG TTATCTGTTAATTCTTTTTACATTATTGAGAGTTGATATTTCAACATTGT GTTGATGATACTAAATCTTTGCCAGAGCATTTCTCTACTTAAGACTTGCT TGCGTTTAAGTGAACTTTTATTCCAAATTTAACCAAGCCACATAACTAAT TCCTTTTGTGATAAAGCTATGATTTATAACGTTTTATTTTCAAAAGCTAA AACAATTTTGAATAAAAAAAGGAAAACTGATACACATATCGGAGTTGAAA TATGAACTGATGAATTTAATATAATTTAAATGCGTGCTCTAAGTCTAGAG TTCAGACAGCTTATAACAGTACATTTAGGAGTCATGTATCATCTGGCCTT GCCTATTCCTCTAGCATATTTTTGATACTATCCAGCCACTTGGCCTAGTT TCAGTTTATTAAGTTGTTCAAGTTCCTTCTGGTCTTGGGATCTTTACACA TCCCTGGAATACTTTTTGCCCCACTTATCCATTATGACCCCTTTCACATG CCTACTTCCTACTCATCTTTGAGTTCTTAGCTTCAATGTCATTTTCCCAG CAAATTTGGATCACTGCCTTATCTCTGCTCCCCTCACTAAGTTACATAAG TATTCCAGATCATTCACTCTTTCAATACTCCCTACTTTTCCCCCATAGTA CTTATTATTGTACTAAGTTTATGATTGCTTAGTTTAAT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01934.hp2 HG01981.hp1 HG01516.hp2 HG01934.hp2 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0152 a0001c0001t0001g0203 a0001c0001t0008g0059 a0001c0001t0001g0152 a0001c0001t0001g0203 a0001c0001t0008g0059	3	242	0.0124	-837	c.196 others(18): Show c.1966-1760_1966-924del	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	8/8			chr5	TogoVar
FOXN3_chr14_89151177_89422233	89361834	ACCACTAC others(830): Show ACCACTACCACCTCCAGCACTACCTCCACCACCACCACCTCCAGCACCAC CTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCACCTCCAGCA CCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACC ACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTC CAGCACCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCA CCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCACT ACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCACCTCCAC CACCACCTCCACCACTACCACCTCCAGCACCACCACCTCCAGCACCACCT CCACCACCACCACCTCCAGCACCACCACCACCTCCTCCTCCTCCACCACC ACCACCTCCACCACCACCACCACCACCTCCAGCACCACCTCTACCACCAC CACCTCCAGCACCACCACCACCTCCTCCTCCTCCTCCACCACCACCTCCA CCACCACCACCTCCAGCACCACCACCACCTCCTCCTCCTCCACCACCACC ACCACCACCTCCAGCACCAGCTCCACCACCTCCTCCTCCACCACCACCAC CACCACCACCACCATCTCCACCACCACCACCACCATCTCTACGACCACCA CCACCACCATCTCCACCACCACCTCCACCACCACCACCACCACCATCTCT ACGACCACCACCACCACCACCATCTCTACGACCACCACCACCTCCACCAC CATCTCCACCACCACCACCACCATCTCCACCACCACCT	A A	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	219	0.0046	-837	c.544 others(19): Show c.544-11863_544-11027del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GRIP1_chr12_66342431_66684076	66362372	CCAACTCC others(830): Show CCAACTCCTAACCTCAAATGATCCACCCGCCTTGGCCTCCCAAAATGCTG GGATTACAGGCGCAAGTCACCGCGCCCAGCCTTCAATTTAATCTTTACTA TAGCCTTGCCTGACAAGTCATATGGCAGAACAACAGTGGAGGAGGAGGAC GATAGGACTGTTCTCCAAGAATCTGGACATGAGGGAAATGGAGTGACCTT CAGAAAGTACACCATTTGTAAGTGAACATTCTACAGATAATACACAAACT TACATGCTAGAAATACGTACATTTGATCACAACAGAGATGCATAAGGATA TCAGGGAGGGATGAATGGTCCCAGACCAGAATCAAACTTAAGGGAAGCTA TTAACATTTCTGAAGAGAGGTGGTGGTGGGTCCAGGACAGAAGCGATAAG ATGTATGATCAAGCCCTGAGAAATAAGGCACACTAGACACTAGCGAGCCT GCCGCAGAGGCGTCTGAGTCTAGGGGATGGCAATTCTCACTGCTTCTCTC GCTCAGAGCTCAGACTCTGCAAACGTGGATGGCAACTTGTAGAAAAGTGA TAAGATACAAATTGAATTCTGTCTGGTAGAGATGCAAATCATTTCTCCCC TCAGAAAAGATAACCTCAAAGGCTTTGATTTTATTTCCCGACAAGTTATT GGGCAGCTTTGATTCCAACTTAGAAAACTTATTCCAACATTTCTTTTCCC CACTGGCTGATATATCACATATCATATATATATCCTACTAACTTTATATA TATATACACACACACATATACACACACATATATACATATATATACACACA CATATATGTATATATGTGTGTGTGTGTCCATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03486.hp1 HG03486.hp2 others(1): Show HG02896.hp2 HG03486.hp1 HG03486.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0018 a0002c0002t0007g0085 a0002c0002t0007g0088 others(1): Show a0002c0002t0007g0018 a0002c0002t0007g0085 a0002c0002t0007g0088 a0002c0002t0007g0194	4	222	0.0180	-837	c.301 others(19): Show c.3012+8485_3013-8810del	GRIP1	ENSG00000155974.14	transcript	ENST00000359742.9	protein_coding	23/24			chr12	TogoVar
OR7C1_chr19_14793515_14840185	14810855	TTTCTTCA others(830): Show TTTCTTCATCTGGGCTAAACACATTCATATTTTTAATCCACATGATCTAA TTTTTTGGGCTATATTTCTATGTATGTTATTTGGAGCATTTCTTCCCAAT GGGAAGGAATTTGGATAAAAAATAATCAGCACCTGACAGTGACTAAGAGC ATGCACTGGCAAACATTTTTGTAAAGGGCTCAGTGGTACATATTTTAGGC TTTTTGGGTCCTATGTTCTCTGTCACAATACTTAACTCTGCCATTGCTGT GAATGCAGGTGTATGCAATACTGACACTAATGGGCATGGCTGTTTGTATT AGCCTCCTGTGGCTGCTGTCACATGTAACCACAAACTGGGTGGCTGAAAA CAACAGGAATGTATTCTCTTATAGTTCTGGAGTCCAGAAGTCCAAAATCA AGGTGCAAGAAGGGCCAGGCTTCCTCCAGAGTCTCTAACGGTGATTCTGT TCCTCGGCTTTTCCATGCTCTATGGCTCCAGGTGTTCCTGACCTTGCAGC TGCGTCATTTCAATCTCCTCTGTCTGTGTCATTTGGTTTCCTCTGCACCT GTGTGTGTTTTCTCCTGTGCATGTCGCTTATAAAGACACTGTGTCATTGA ATTTAAGGTCCACCTGGATAATCCAGGATGATCTCATCTCAGGATGCCTA ATTGTATCTGTAAAGACTCTTCATCCAAATAAGGCTACATTCACTGGCAC TAGGGGTGAGGATGTGAGCTTATCCTTTAGGGGGGCCAACATTCAACTCA CCAAACTTACTGTGCTCAAATAAAGCCTTTTTACAAAGAGGCTGTGGGTA GGATTTGGCCTGTGGGCAGTAGTTTGCTGACCCCCAGC	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02129.hp2 HG03017.hp2 others(4): Show HG02071.hp1 HG02129.hp2 HG03017.hp2 HG03491.hp2 HG03492.hp1 HG03669.hp2 HG04204.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0009 a0008c0007t0015 a0008c0007t0009 a0008c0007t0015	a0008c0007t0009g0028 a0008c0007t0009g0101 a0008c0007t0009g0168 others(3): Show a0008c0007t0009g0028 a0008c0007t0009g0101 a0008c0007t0009g0168 a0008c0007t0009g0200 a0008c0007t0009g0214 a0008c0007t0015g0131	7	406	0.0172	-837	c.-62 others(18): Show c.-622-1699_-622-863del	OR7C1	ENSG00000127530.4	transcript	ENST00000641666.2	protein_coding	1/4			chr19	TogoVar
RIPK1_chr6_3063494_3120187	3092776	AGCGCCTA others(830): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTAC CTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCG CAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGC ACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCG CCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGT AACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCT GCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCA GAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCAC CTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCC TACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAA CCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0271 a0001c0002t0002g0271	1	266	0.0038	-837	c.915 others(17): Show c.915+3486_915+4322del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
STK33_chr11_8386870_8599228	8448857	TGGGAGAA others(830): Show TGGGAGAAAATTGTTGCAATCTACTCATCTGACAAAGGGCTAATATCCAG AATCTACAATGAACTCAAACAAATTTACAAGAAAAAACAAACAACCCCAT CAAAAAGTGGGCAAAGGAAATGAACAGACACTTCTCAAAAGAAGACATTT ATGCAGCCAAAAGACACGTGAAAAAATGCTCATCATCACTGGCCATCAGA GAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGAAT GGCGGTCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAG AAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCA TTGTGGAAGACAGTGTGGCGATTCCTCAGTGATCTAGAACTAGAAATACC ATTTGACCCAGCCATCCCATTACTGGGTATATACTCAAAGGATTATAAAT CATGCTGCCATAAAGACACATGCACACATATGTTTACTGCGGCACTATTC ACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATCAACTG GATTAAGAAAATGTGGCACATATACACTATGGAATACTATGCAGCCATAA AAAATGATGAGTTCAGGTCCTTTGTAGGGACATGGATGAAGCGGAAACCA TCATTCTCAGCAAACTATCGCAAGGACAAAAAACCAAACACCGCATGTTC TCACTCATAGGTGGGAATTGAACGATGAGAACACATGGACACAGGAAGGG GAACATCACACACTGGGGCCTGTTGTGGGGTGGGTGGGGGGAGGGATAGC ATTAGGAGATATACCTAATGTTAAATGATGAGCTAATG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19030.hp1 HG02145.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0019 a0002c0004t0013 a0001c0001t0019 a0002c0004t0013	a0001c0001t0019g0119 a0002c0004t0013g0030 a0001c0001t0019g0119 a0002c0004t0013g0030	2	332	0.0060	-837	c.871 others(17): Show c.871+3128_871+3964del	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	11/15			chr11	TogoVar
ADGRA1_chr10_133082924_133136675	133135401	AGGTCCCT others(829): Show AGGTCCCTGTTGGGGGGGTCTGGTCTCTGGGTCCCTGTGGGGGGGGTCTG GTCTCTGGGTCCCTGTGGTGGGGGGGGGTCTCTGGGTCCCTGTGGGGGCG GCTGGTCTCTGGGTCCCTGTGGGGGTGTCTGGTCTCTGGGTCCCTGTGGT GGGGGGGGTCTCTGGGTCCCTGTTGGGGGGTCTGGTCTCTGGGTCCCTGT AGGGGTTCTGGTCGCTGGGTCCCTGTAGGCGGGTCTGGTCTCTGGGTCCC TGTGGGGGGGTTCTGGTCTCTGGGTCCCTGTGGTGGGGGGGGGGTCTCTG GGTCCCTGTTGGGGGGTCTGGTCTCTGGGTCCCTGTGGGGGCGGCTGGTC TCTGGGTCCCTGTGGTGGGGGGGGTCTCTGGGTCCCTGTTGGGGGGTCTG GTCTCTGGGTCCCTGTGGGGGCGGCTGGTCTCTGGGTCCCTGTGGTGGGT CTGGTCTCTGGGTCCCTGTGGGGGGGTTCTGGTCTCTGGGTCCCTGTGGG GGCAGCTGGTCTCTGGGTCCCTGTGGGGGTTTCTGGTCTCTGGGTCCCTG TGGGGGGGTCTGGTCTCTGGGTCCCTGTGGTGGGGGGGGTCTCTGGGTCC CTGTGGGGGGGTCTGGTCTCTGGGTACCTGTGGGGGCAGCTGGTCTCTGG GTCCCTGTGGGGGGGTTCTGGTCTCTGGGTCCCTGTGGGGGCGGCTTGTC TCTGGGTCTCTGTGGGGGGGTCTGGTCTCTGGGTCCCTGTGGAGGCGGCT GGTCTCTGGGTCCCTGTAGGGGTTCTGGTCTCTGGGTCCCTGTGGGCGGG TCTGGTCTCTGGGTCTGTTGGGGGGGTCTGGTCTCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0239 a0001c0001t0061g0239	1	366	0.0027	-836	c.58 others(11): Show c.5891_*6726del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding		3727		chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133135411	TGGGGGGG others(829): Show TGGGGGGGTCTGGTCTCTGGGTCCCTGTGGGGGGGGTCTGGTCTCTGGGT CCCTGTGGTGGGGGGGGGTCTCTGGGTCCCTGTGGGGGCGGCTGGTCTCT GGGTCCCTGTGGGGGTGTCTGGTCTCTGGGTCCCTGTGGTGGGGGGGGTC TCTGGGTCCCTGTTGGGGGGTCTGGTCTCTGGGTCCCTGTAGGGGTTCTG GTCGCTGGGTCCCTGTAGGCGGGTCTGGTCTCTGGGTCCCTGTGGGGGGG TTCTGGTCTCTGGGTCCCTGTGGTGGGGGGGGGGTCTCTGGGTCCCTGTT GGGGGGTCTGGTCTCTGGGTCCCTGTGGGGGCGGCTGGTCTCTGGGTCCC TGTGGTGGGGGGGGTCTCTGGGTCCCTGTTGGGGGGTCTGGTCTCTGGGT CCCTGTGGGGGCGGCTGGTCTCTGGGTCCCTGTGGTGGGTCTGGTCTCTG GGTCCCTGTGGGGGGGTTCTGGTCTCTGGGTCCCTGTGGGGGCAGCTGGT CTCTGGGTCCCTGTGGGGGTTTCTGGTCTCTGGGTCCCTGTGGGGGGGTC TGGTCTCTGGGTCCCTGTGGTGGGGGGGGTCTCTGGGTCCCTGTGGGGGG GTCTGGTCTCTGGGTACCTGTGGGGGCAGCTGGTCTCTGGGTCCCTGTGG GGGGGTTCTGGTCTCTGGGTCCCTGTGGGGGCGGCTTGTCTCTGGGTCTC TGTGGGGGGGTCTGGTCTCTGGGTCCCTGTGGAGGCGGCTGGTCTCTGGG TCCCTGTAGGGGTTCTGGTCTCTGGGTCCCTGTGGGCGGGTCTGGTCTCT GGGTCTGTTGGGGGGGTCTGGTCTCTGGGTCCCTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0025 a0001c0001t0042g0025	1	365	0.0027	-836	c.59 others(11): Show c.5901_*6736del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding		3737		chr10	TogoVar
AP4S1_chr14_31020649_31101450	31073306	CGGTGAAA others(829): Show CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGT GGTGGGCGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCA CTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAGAAAAAAAAAAAACC CTCTTATTTGTTTTCTCCCAATTATGAGCTTTTGCTATCTGACTTGCCCC CTCTTTTCTTCTTCCCTCTGCTTTCTTTTTTTATTTTTTATTATTTATTT ATTTTTTTATTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAG TGCAGTGACGCGATCTCAGCTCACTGCAAGCCGTGCCACCACGCCCAGCT AATTTTGTATTTTTAGCAGAGATGGGGTTTCTCCATGTTGGTCAGGCAGG TCTCAAACTCCCCACCTCAGGTGATCCACCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCCCCTCTGCCTTA TTTCCTAAGACACCAGGATGCTTTTCACTTTAAGAATCATTCCCATCCAA ACCCTTGTTTTGAGGGTCAAAAGTCAATTCTCCTTAGGGAATATGTGAGC TCCTTTCCGAAAATCTTTTTAAAGCCATTTTAATAGCTATATTGAAATAT ATTTTATGTATAATACAGTTCACCCATTTAAAGTGTGTAATTGGCCGGGT GTGGCTGACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTAGAT CATGAGGTCAGGAGTTGAAGACCAGGCTGGCCAAAAT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0007 a0001c0001t0019g0007	1	336	0.0030	-836	c.294 others(16): Show c.294+344_294+1179del	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
C7orf50_chr7_992006_1143247	1128411	CGTCACCC others(829): Show CGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTC ACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCTCACCGTCACCC GGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGC TGGAGTGCAGTGGCGCGATCTCGGCTCATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCGCCATCTCGGCTCATCTCACCGTCACCCGGGCTGGAGTGC AGTGGCACAATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTG GCACGATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGC GCCATCTCGGCTCATCGCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGC CATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGA TCTCGGCTCATCCCACCATCACCCGGGCTGGAGTGCAGTGGCGCCATCTC GGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGG CTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCT CATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATC CCACCATCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCAC CGTCACCTGGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATCTCACCGTC ACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATCCCACCGTCACCC GGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCTCA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG00738.hp1 others(8): Show HG00642.hp1 HG00733.hp2 HG00738.hp1 HG01358.hp1 HG02027.hp1 HG03239.hp1 HG04228.hp1 NA18961.hp1 NA18965.hp2 NA18994.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0006 a0001c0001t0017 a0003c0009t0006 a0001c0001t0006 a0001c0001t0017 a0003c0009t0006	a0001c0001t0006g0083 a0001c0001t0006g0089 a0001c0001t0006g0090 others(8): Show a0001c0001t0006g0083 a0001c0001t0006g0089 a0001c0001t0006g0090 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0006g0096 a0001c0001t0006g0097 a0001c0001t0006g0099 a0001c0001t0017g0086 a0001c0001t0017g0098 a0003c0009t0006g0003	11	315	0.0349	-836	c.-1- others(15): Show c.-1-1861_-1-1026del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
DIRAS1_chr19_2709567_2726372	2713141	TCACCTCC others(829): Show TCACCTCCTCCATCCTTCATCCCATCCCTCACTTCCTACACCCATCGCCT CCTCCACCCTTCACCCCATACCTCACTTCCTACACCCATCACCTCCTCCA CCCTTCACCCCATACCTCACTTCCTACACCCACCACCTCCTCCACCCTTC ATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCA TCCCTCACTTCCTACACCCATCACCTCCTCCACCCTTCATCCCATCCGTC ACTGTCTACACCGATCACCTCCTCCACCCTTCATCCCATCCCTCACTTCC TACACCCACCACCTCCTCCACCCTTAATGCCATCTCTCACTTCCTACACC CATCACCTCCTCCACCCTTCATCCCATCCATCACTGTCTACACCCATCAC CTCCTCCACCCTTCATCCCATCCCTCACTTCCTCCACGCACCACCTCCTC CACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCT TCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCC CATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCC TCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTT CCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACA CCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTC ACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCC TCCACCCTTCATCCCATTCCTCACTTCCTACACCCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0012 a0001c0001t0008g0012	1	405	0.0025	-836	c.32 others(11): Show c.3233_*4068del	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1425		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713380	TCCCATCC others(829): Show TCCCATCCGTCACTGTCTACACCGATCACCTCCTCCACCCTTCATCCCAT CCCTCACTTCCTACACCCACCACCTCCTCCACCCTTAATGCCATCTCTCA CTTCCTACACCCATCACCTCCTCCACCCTTCATCCCATCCATCACTGTCT ACACCCATCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTCCACGC ACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACC TCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCC ACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTT CATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCC ATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCT CACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTC CTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACAC CCACCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCA CCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCATCACCTCCT CCACCCTTCATCCCATCCCTCACTTCCTCCACCCACCACCTCCTCCACCC TTCACCCCATCCCTCACTTCCTACACCCATCACCTCCTCCACCCTTCACA CCATCCCTCACTTCCTACACCCACCACTTCCTCCACCCTTCATCCCATCC CTCACTTCCTACACCCACCACCTCCTCCACCCTTCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	409	0.0024	-836	c.29 others(11): Show c.2994_*3829del	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1186		chr19	TogoVar
NAALADL2_chr3_174854334_175815548	175670406	ACATTAAA others(829): Show ACATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAA ATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATATATTT ATATTAAATTTATATTAAATGTAAATTTAATTATATTATTTTACATTATA TTAAAATTTAATATATTTATATTAAATGTAAAATTAATTTTATTAAATAT ATATTAAATGTAAAATTAAATTTATACATTTTCCTGCACCAACAGGAATT TTCAATCCTCCAAGATATTTAAGTTTTGTTTAAATGAAATAATAAGGAAC ATCTGGTTATTCTTGACTCATGGCATTTCAATATTACCACACAAAATTAT CCAACGTTTTGGCAAGTTCTGTTTTTTAATGAGCTTTATTATTTTAAAGT ACATCATTCATGAAGAATGTTATAAGTAAAATGTTATTTGTCTCATTTTC AAAAAATTCAACTCAAACGAAAAATATTTAGGTCTACTGGAGAAGTTTAA TTCAATTAGAGAACAATTTAGGATATTCCTAGTACATACGTAAATTACCT TATTTTGATCTTCTGAGCAACAAGTGACCTCAAGTTGTAAAAAAAAATAA TAATAATAAGCAAAAAAGCGAGAATAAAAATTTTAGACCCTAAACAACAG GGACACGTTTTAAATGTGTCTCTCAAAGGATACATTATTTTACTTTTGCT TTAAATAAACAAATCATGACTTAAGTCATGACTTAAGACTTGTGAATTTG AACATTTTTCCAAAGGAAGTGAAAAAAATAACTTGAACTTTTTTACTTAC TTTATGTATTCTATAAGTTTCTGCAAAATGTTAACTC	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03453.hp1 HG02895.hp2 HG03453.hp1	a0002 a0002	a0002c0003 a0002c0007 a0002c0003 a0002c0007	a0002c0003t0004 a0002c0007t0001 a0002c0003t0004 a0002c0007t0001	a0002c0003t0004g0046 a0002c0007t0001g0064 a0002c0003t0004g0046 a0002c0007t0001g0064	2	64	0.0313	-836	c.189 others(21): Show c.1896+43025_1896+43860del	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPS6KC1_chr1_213046241_213279774	213151257	CGGGCAGA others(829): Show CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTAACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCGCTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGACGGGCAGAGGGGCTCCTCGCTTCCCAGTAGGGGCGGCTGGGCAGAG GCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCATCCCAGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGACGCGCCCCTCACCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCCATCTCCCTCCCGGAC GAGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCAGCTGGCCGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCAACCTCCCTCCAAGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGG CAGAGGCGCCCCTCACCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCT AACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02630.hp2 HG02895.hp2 others(2): Show HG01243.hp1 HG02630.hp2 HG02895.hp2 HG03041.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0281 a0001c0001t0003g0283 a0001c0001t0003g0284 others(2): Show a0001c0001t0003g0281 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0289	5	328	0.0152	-836	c.836 others(19): Show c.836-16540_836-15705del	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZCCHC2_chr18_62518025_62583579	62580618	CAGGTGGA others(829): Show CAGGTGGACCCCTCCCGAGACGGTGTCACAGTGCTGTGGAAGGCCAGGTG GACCCCTCCCGAGACGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCC TCCCGAGATGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGA GACGGTGTCACAGTGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGACGGT GTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGATGGTGTCACA GCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGACGGTGTCACAGTGCTG TGGAAGGCGAGGTGGACCCCTCCCGAGATGGTGTCACAGTGCTGTGGAAG GCGAGGTGGACCCCTCCCGAGATGGTGTCACAGTGCTGTGGAAGGCGAGG TGGACCCCTCCCGAGACGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACC CCTCCCGAGACGGTGTCACAGTGCTGTGGAAGGCCAGGTGGACCCCTCCC GAGACGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGATG GTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGACGGTGTCA CAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGACGGTGTCACAGTGC TGTGGAAGGCCAGGTGGACCCCTCCCGAGACGGTGTCACAGCGCTGTGGA AGGCCAGGTGGACCCCTCCCGAGATGGTGTCACAGCGCTGTGGAAGGCCA GGTGGACCCCTCCCGAGACGGTGTCACAGTGCTGTGGAAGGCGAGGTGGA CCCCTCCCGAGATGGTGTCACAGTGCTGTGGAAGGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(108): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02273.hp1 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02683.hp1 HG02723.hp2 HG02897.hp1 HG03017.hp1 HG03209.hp2 HG03239.hp2 HG03491.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp2 NA18947.hp2 NA18949.hp2 NA18951.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18968.hp2 NA18980.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp2 NA19010.hp2 NA19011.hp2 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19082.hp2 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0009	a0001c0001 a0001c0003 a0001c0037 others(8): Show a0001c0001 a0001c0003 a0001c0037 a0001c0045 a0002c0002 a0002c0005 a0002c0007 a0002c0025 a0002c0026 a0005c0027 a0009c0044	a0001c0001t0005 a0001c0001t0021 a0001c0003t0002 others(17): Show a0001c0001t0005 a0001c0001t0021 a0001c0003t0002 a0001c0003t0005 a0001c0003t0016 a0001c0037t0002 a0001c0045t0002 a0002c0002t0002 a0002c0002t0013 a0002c0002t0022 a0002c0002t0023 a0002c0002t0026 a0002c0002t0029 a0002c0005t0005 a0002c0005t0028 a0002c0007t0002 a0002c0025t0002 a0002c0026t0002 a0005c0027t0005 a0009c0044t0020	a0001c0001t0005g0175 a0001c0001t0021g0250 a0001c0003t0002g0032 others(102): Show a0001c0001t0005g0175 a0001c0001t0021g0250 a0001c0003t0002g0032 a0001c0003t0002g0035 a0001c0003t0002g0036 a0001c0003t0002g0040 a0001c0003t0002g0041 a0001c0003t0002g0042 a0001c0003t0002g0044 a0001c0003t0002g0045 a0001c0003t0002g0047 a0001c0003t0002g0048 a0001c0003t0002g0049 a0001c0003t0002g0052 a0001c0003t0002g0075 a0001c0003t0002g0079 a0001c0003t0002g0080 a0001c0003t0002g0179 a0001c0003t0002g0186 a0001c0003t0002g0235 a0001c0003t0005g0051 a0001c0003t0016g0234 a0001c0003t0016g0265 a0001c0037t0002g0037 a0001c0045t0002g0218 a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0008 a0002c0002t0002g0014 a0002c0002t0002g0018 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0029 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0111 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0136 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0149 a0002c0002t0002g0155 a0002c0002t0002g0158 a0002c0002t0013g0093 a0002c0002t0013g0100 a0002c0002t0013g0148 a0002c0002t0022g0090 a0002c0002t0023g0116 a0002c0002t0026g0157 a0002c0002t0029g0117 a0002c0005t0005g0005 a0002c0005t0005g0009 a0002c0005t0005g0112 a0002c0005t0005g0113 a0002c0005t0005g0118 a0002c0005t0005g0120 a0002c0005t0005g0121 a0002c0005t0005g0139 a0002c0005t0005g0146 a0002c0005t0005g0151 a0002c0005t0005g0156 a0002c0005t0028g0005 a0002c0007t0002g0002 a0002c0007t0002g0003 a0002c0007t0002g0109 a0002c0007t0002g0110 a0002c0007t0002g0134 a0002c0007t0002g0135 a0002c0007t0002g0137 a0002c0007t0002g0152 a0002c0007t0002g0153 a0002c0007t0002g0154 a0002c0025t0002g0105 a0002c0026t0002g0159 a0005c0027t0005g0005 a0009c0044t0020g0271	111	306	0.3627	-836	c.40 others(11): Show c.4040_*4875del	ZCCHC2	ENSG00000141664.10	transcript	ENST00000269499.10	protein_coding		2040		chr18	TogoVar
ZCCHC2_chr18_62518025_62583579	62580770	CGGTGTCA others(829): Show CGGTGTCACAGTGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGACGGTGT CACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGATGGTGTCACAGC GCTGTGGAAGGCCAGGTGGACCCCTCCCGAGACGGTGTCACAGTGCTGTG GAAGGCGAGGTGGACCCCTCCCGAGATGGTGTCACAGTGCTGTGGAAGGC GAGGTGGACCCCTCCCGAGATGGTGTCACAGTGCTGTGGAAGGCGAGGTG GACCCCTCCCGAGACGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCC TCCCGAGACGGTGTCACAGTGCTGTGGAAGGCCAGGTGGACCCCTCCCGA GACGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGATGGT GTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGACGGTGTCACA GCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGACGGTGTCACAGTGCTG TGGAAGGCCAGGTGGACCCCTCCCGAGACGGTGTCACAGCGCTGTGGAAG GCCAGGTGGACCCCTCCCGAGATGGTGTCACAGCGCTGTGGAAGGCCAGG TGGACCCCTCCCGAGACGGTGTCACAGTGCTGTGGAAGGCGAGGTGGACC CCTCCCGAGATGGTGTCACAGTGCTGTGGAAGGCGAGGTGGACCCCTCCT GAGATGGTGTCACAGTGCTGTGGAAGGCGAGGTGGACCCCTCCCGAGATG GTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGATGGTGTCA CAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(114): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01099.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01884.hp1 HG01928.hp1 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02809.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03516.hp2 HG03654.hp2 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp2 NA18940.hp1 NA18942.hp1 NA18944.hp1 NA18947.hp1 NA18949.hp1 NA18951.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18966.hp2 NA18968.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19010.hp1 NA19011.hp1 NA19043.hp1 NA19057.hp1 NA19060.hp2 NA19063.hp2 NA19070.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19082.hp1 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0001c0019 others(13): Show a0001c0001 a0001c0010 a0001c0019 a0001c0029 a0001c0031 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0040 a0001c0042 a0002c0005 a0002c0011 a0002c0012 a0002c0022	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(19): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0010t0001 a0001c0010t0011 a0001c0019t0001 a0001c0029t0001 a0001c0031t0008 a0001c0032t0008 a0001c0033t0001 a0001c0034t0001 a0001c0035t0001 a0001c0036t0001 a0001c0040t0008 a0001c0042t0001 a0002c0005t0001 a0002c0005t0007 a0002c0011t0001 a0002c0012t0008 a0002c0012t0017 a0002c0022t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(107): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0007g0006 a0001c0001t0007g0039 a0001c0001t0007g0055 a0001c0001t0007g0197 a0001c0001t0007g0198 a0001c0001t0007g0207 a0001c0001t0007g0242 a0001c0001t0007g0251 a0001c0001t0011g0001 a0001c0001t0012g0170 a0001c0001t0012g0204 a0001c0001t0012g0226 a0001c0001t0012g0232 a0001c0010t0001g0192 a0001c0010t0011g0216 a0001c0010t0011g0217 a0001c0010t0011g0237 a0001c0010t0011g0259 a0001c0019t0001g0010 a0001c0029t0001g0215 a0001c0031t0008g0189 a0001c0032t0008g0230 a0001c0033t0001g0228 a0001c0034t0001g0050 a0001c0035t0001g0260 a0001c0036t0001g0246 a0001c0040t0008g0054 a0001c0042t0001g0187 a0002c0005t0001g0017 a0002c0005t0001g0119 a0002c0005t0001g0138 a0002c0005t0001g0270 a0002c0005t0007g0284 a0002c0011t0001g0180 a0002c0011t0001g0188 a0002c0011t0001g0257 a0002c0011t0001g0267 a0002c0012t0008g0277 a0002c0012t0008g0288 a0002c0012t0017g0278 a0002c0012t0017g0285 a0002c0022t0001g0046	117	277	0.4224	-836	c.41 others(11): Show c.4192_*5027del	ZCCHC2	ENSG00000141664.10	transcript	ENST00000269499.10	protein_coding		2192		chr18	TogoVar
INIP_chr9_112678926_112723117	112681970	ATTTTTAG others(828): Show ATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATC TCCTGACCTCGTGATGCCCCGCCTCAGCCTCCCAAAGTGCTGGAATTACC ACACCCGGCCGCTTTTTCCTTCTTAAAAGGCTTTTGGAGTTAGAGATACA GAAGAAAACTGGAGGAAAGAAAGGTAGATAGGGGAGGGAGGTGAACAGAG AGAAATTTGGGGAAGGACCCAACAACTAAATGCAAGAGAAAGCGAAGACA GATGGGGCTGGAGTTGAAAGGCAGATGTAAACAGAACACACCTGTCTCTG AATTTGCAGACATGAAGAGTAATATTCTTTTAGTACCTCACATGTTCCCC TTTCCCAAGAGCTGATGAGGGCTGGATGGGTTCATCTCTGTACCTGCCTA TGCCCACAAATGTTCAATGTCTCCCCGCTGTGTACCAAGCTAGAGGTCTG GCGCACCCTGGAATTCCAGATGCTCTGGAATGGATCTAACCTCCGGTTAG CCTCGTTTCCAGTTATCTGCCTAGACATGTCTCTCTGTGCTCCAGCCAAA TCGAGCTTTTGGTCTCCCCACAACGCCCACAAACCTGCTTTCCTCCTGCC TCTGTGCAGGTGTTTCCTTTGCTTTGAATGTTGCTCTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTCTCCCAGGCTGGAGT CCAGTGGCTCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCCCGC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCAC CGCACCCAGCTATTTTTTTTTTTTTTTTTTTTGTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02818.hp1 NA19043.hp2 HG02109.hp1 HG02818.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0168 a0001c0001t0011g0169 a0001c0001t0011g0267 a0001c0001t0011g0168 a0001c0001t0011g0169 a0001c0001t0011g0267	3	370	0.0081	-835	c.47 others(11): Show c.4733_*5567del	INIP	ENSG00000148153.14	transcript	ENST00000374242.9	protein_coding		1955		chr9	TogoVar
LHPP_chr10_124456823_124619141	124506961	TGGGCGGG others(828): Show TGGGCGGGTAGACAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGT CGGGGGGTAGACAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTG TAGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGCA GGGGTAGACAGGATTTCAGGTCGGGGGGTTAGAGAGGATTTCAGGTGGGA GGGTAGGCAGGATTTCAGGTCAGGGGGATAGACAGGATTTCAGGTGGGGG GATAGGGAAGATTTCAGGTGTGGAGGGTAGGCAGGATTTCAGGTCGGGGG GGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGG GTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGGGT AGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATA GGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAG GGAGTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGGTAG ACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGG AGTATTTCAGGTGGGGAGGGTAGACAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTG	T T	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	247	0.0040	-835	c.624 others(17): Show c.624+8837_625-9381del	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
DLGAP2_chr8_732628_1713476	1561796	TGGGGTGT others(827): Show TGGGGTGTCTGCACCTCGTTACTGGGGGACTGTGTGGTGTTGGGTGTCCG CGCCTCGTTACTGGGGGACTGTGTGGTGTTGGGTGTCCGCGCCTCGTTAC TGGGGGACTGTGTGGAGTTGGGGTGTCCGCGCCTCGTTGCTGCGGGACTG TGTGGTGTTGGGGTGTCCGCGCCTCGTTGCTGCGGGACTGTGTGGTGTTG GGGTGTCGGCGCCTCGTTACTGGGGGACTGTGTGGTGTTGGGTGTCCGCG CCTCGTTACTGGGGGACTGTGTGGTGTTGGGGTGTCCGCGCCTCGTTACT GGGGGACTGTGTGGTGTTGGGTGTCCGCGCCTCGTTACTGGGGGACTGTG TGGTGTTGGGGTGTCCGCGCCTCGTTACTGGGGGACTGTGTGGTGTTGGG GTGTCTGCACCTCGTTACTGGGGGACTGTGTGGTGTTGGGGTGTCTGCGC CTCGTTACTGGGGGACTGTGTGGTGTTGGGTGTCGGCGCCTCGTTACTGG GGGACTGTGTGGTGTTGGGGTGTCCGCGCCTCGTTACTGGGGGACTGTGT GGTGTTGGGGTGTCCGCGCCTCGTTGCTGGGGGACTGTGTGGTGTTCGGG TGTCCGCGCCTCGTTACTGGGGGACTGTGTGGAGTTCGGGTGTCCGCGCC TCGTTGCTGCGGGACTGTGTGTTGTTGGGGTGTCGGCGCCTCGTTACTGG GGGACTGTGTGGTGTTGGGGTGTCCGCGCCTCGTTACTGGGGGACTGTGT GGTGTTGGGTGTCCGTGCCTCGTTGCTGGTGGACTGTGTGGTGTTGGGTG TCCGCGCCTCGTTGCTCGGGGACTGTGTGGTGTTG	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01361.hp1 HG01496.hp1 others(13): Show HG01071.hp2 HG01361.hp1 HG01496.hp1 HG02071.hp1 HG02074.hp1 HG02258.hp1 HG02647.hp2 HG02698.hp2 HG02818.hp2 HG02895.hp2 HG02922.hp2 HG02976.hp1 HG03486.hp1 HG03492.hp1 HG03710.hp1 NA18906.hp1	a0002 a0004 a0002 a0004	a0002c0001 a0002c0004 a0002c0006 others(2): Show a0002c0001 a0002c0004 a0002c0006 a0002c0007 a0004c0008	a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 others(11): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0007 a0002c0001t0011 a0002c0001t0019 a0002c0001t0020 a0002c0004t0003 a0002c0004t0018 a0002c0004t0026 a0002c0006t0021 a0002c0007t0008 a0004c0008t0016	a0002c0001t0001g0018 a0002c0001t0002g0013 a0002c0001t0002g0032 others(13): Show a0002c0001t0001g0018 a0002c0001t0002g0013 a0002c0001t0002g0032 a0002c0001t0003g0021 a0002c0001t0005g0029 a0002c0001t0005g0035 a0002c0001t0007g0038 a0002c0001t0011g0002 a0002c0001t0019g0031 a0002c0001t0020g0024 a0002c0004t0003g0009 a0002c0004t0018g0010 a0002c0004t0026g0016 a0002c0006t0021g0014 a0002c0007t0008g0040 a0004c0008t0016g0028	16	39	0.4103	-834	c.123 others(19): Show c.1231-3883_1231-3050del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPP6_chr7_154047398_154899285	154061050	TTACGATC others(827): Show TTACGATCCGACGGGTCCGAACGCAGCTCGGGAACAGAAAGAAAGCAGGT TATTTGCAATCTACCGGAAATTAAGGGCAGAAGGCAGGTGAGAGAATTCT TAGGAGCTGTGGGGTTTTGTAGACTGTGGATCCCAAACTGCAGTATTAGC CAAGCCTTTGTATGAGGTCACAAAGGGGGCGGGGACCCGGAACTTTTGAA ATGGGGATCCCAACAACAGCAAGTTTTTCATGAGTTACAAGAAAATCTTC TGGCAGCCCCAGCCCTGGGGCTACCCGATCTGACAAAGCCTTTTCCATTG TATGCGTCAGAGAGAGAAAAGATGGCAGCTGGACTTTTAACCCAAACTGT GGGGCCCTGGCTGAGGCCGGTAGCCTACATCTCTAAACAACTAGACAGGG TTGCTAAAGGATGGCCCCCCTATTAGAGGGCCTTGGCAGCAACTGCCCTG CTAGTACAAGAAGCAAATAAGCTGATTCTTGGGCAAAACCTGAACATAAA GGCCCCCCATTTTGTGATGGCTGAGATCCATCCCCTCTTCCCCCCTGGCT CTTGGGACTCCCATCACAGGGGGGGGAGGCACCCGCTGCGAGGCGGGGAC TCAGAGCCAACCCCTCTTCCCCCCCTGGCTCTTGGGACCACCATCGCAGG GGGGGAGGCAATCCCCGCGAGGCGGGGACTGCGAACCTCCCCCTTTCCTC CCCTGGCTCTTTGCACCCCCATCGCAGGGAGGGAGGCACCCCTCGCGACG CGGGGACTGAGAGCGAGCCCCTCTTCCCCCCTTTGCTCTTAGGATCCCCA TCGCTGGGGGCGGAGGCACCCCCCGCGAGGCAGGG	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0015 a0001c0006t0002g0015	1	38	0.0263	-834	c.243 others(17): Show c.243+7988_243+8821del	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25			chr7	TogoVar
MARCHF1_chr4_163519718_164389019	163737146	CTCGCAGC others(827): Show CTCGCAGCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTCACATATTAGTTT ATTTATTTATTTTTTTTAATTTTTTTTTTTTTTATTATACTCTAAGTTTT AGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCC ATGCTGGTGCGCTGCACCCACTAACGTGTCATCTAGCATTAGGTATATCT CCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGT GTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACC TATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGACAGTTTAC TGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGACATGAAC TCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACAT TTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTTGCAGCCAAAAA ACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCA AAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAA AAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACT TTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAG TGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCC ATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTCTAA AGACACATGCACACGTATGTTTATTGCGGCACTAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp2 HG01109.hp1 others(7): Show HG00639.hp1 HG00741.hp2 HG01109.hp1 HG01261.hp1 HG02132.hp1 HG02280.hp2 HG03490.hp1 HG03491.hp1 HG03540.hp2 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0002c0003t0001	a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0078 others(7): Show a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0078 a0001c0002t0002g0011 a0001c0002t0002g0030 a0001c0002t0002g0054 a0001c0002t0003g0001 a0001c0002t0003g0060 a0001c0002t0003g0096 a0002c0003t0001g0002	10	102	0.0980	-834	c.112 others(19): Show c.112-37117_112-36284del	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9			chr4	TogoVar
DIP2C_chr10_269201_694668	321947	CTGTTAGA others(826): Show CTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGC TGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCT GTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTG TTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGT TAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTT AGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTA GAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAG AACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGA ACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGTTGTTAGAA CAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAAC AGTCAGTCGGGGGTGCGGGGGTCCGGCGAGAGACCGGCGCTGTTAGAACA GTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGTTGTTAGAACAG TCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGT CCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTC AGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGTTGTTAGAACAGTCA GTCGGGGGTGCGGGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAG TCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0078 a0001c0004t0003g0078	1	64	0.0156	-833	c.392 others(19): Show c.3924+4226_3924+5058del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(826): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	273	0.0037	-833	c.23 others(11): Show c.2331_*3163del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2955		chr16	TogoVar
MPZL1_chr1_167716982_167796919	167796086	TCCATCCA others(826): Show TCCATCCATTTCTTCACTGTGGCCTTTGTGGAGCTGGCCTTTAGTGTTGC AGAATATAAGGAAGGGCTGGGTTTGTTTGTTTGTTTGTCTTTTAAAATCT CCCTACCTCTGTGAAGAGGATGTGGTGCAGATTTGCTTTCAAGCCTTGCC CTCCGTGCTGTGGGGCTGACAAAATTCTGGTTACTTTGCCCTTCAGGGCA TTAAATGATTTCAGGTATTTATACCTGAGTCACTGCTCTGCTATGGGAGC GGGGGATAGAACAGCTAAAAACCATCTTAAGGCCTGAGGTTTCTCATTCT GTGATAAGGACTCCAAGGAAACTGAATTTCAATACTAGAGTACATTGTTG GTTCTTTCTCTGCCTTTGAATAGAATTATTTTTTAAATTACAAAGTTTCT TTTAAAAGAAAGAACTTTTAAATATATTTTGTAGGGAATCTCTTAGAAGG TACAATAGATTCATAGGAATGTGGAACATTTGGCCGGGTGCAGTGGCTCA TGCCTGTAATCCCAACAATTTGGGAGGCCGAGGCAGGCGGATCACTTGAG GTCAGGAGTTAAAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTAC TAAAAATACAAAAAATTAGCCGGGGGCGGTGGCATGCTCCTGTAGTCCCA GCTACTCGGGAGGCTGAGCGGGGAGAAGGGGAGAATCACTTGAACCCAGG AGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGTACTCCAGCCTGGG CAACAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAA TGTGGAACATTTTACAAAATCTCGTCCATGATCT	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG00280.hp1 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0201 a0001c0001t0002g0100 a0001c0001t0002g0201	2	376	0.0053	-833	c.81 others(11): Show c.8166_*8998del	MPZL1	ENSG00000197965.12	transcript	ENST00000359523.7	protein_coding		4168		chr1	TogoVar
SBNO1_chr12_123284109_123369847	123353393	TTCCAATG others(826): Show TTCCAATGAGTAGATAAAGTTGATGTTGGTAAACTACGATGTTTCATTAT TTTATTTCAAAATAAACGCCAGATTGAGATTAAAATTGGAGGGGGAATAA AGTATTAGACAGCAAGATATAAATAACATGAAGGAAATGAATGACAGAGT TAACAGGAGAAATGTCCCAATATAGATTTCAAATAAAGTTGTTTGCCTGA TGACTTTTGATTCAAAAAAAAGACCAAGTTAACTAATTTTTCTAATATAG ACACATTTGACCATACTTTTACAAATTATCCTACTGCATAATACGAACAA GTACCTAGAGCTCTAAATCAATGCTTTTAACATTTTCAATCCATAAAATA CTTCGTTAAGACTAAAATAGGGTCTTGGCCCACTGGCTACAGATAATCTT GACCCAGATTAATAGAACTCTGGAGACTATCAAAATGTCATCTCTTTAAA ATAAATACTGGAAATGATTTATTTACATTTGAAACAGAAGTACATTGTTT TAATCCAGTGACTTCCAAAACTACAGACCACAGAGCCCCTGCAGGCCACA GGATCCATCAGTCCATGAGCTATACACCAAGCCCTATCTAATAATATTCA AAAGTGTAGAGATGCCATTAATCAATGAAATGCATATTCACTGCAAACTA TTATTCAGTTCATGAGAGCTTTCTGAAATGTTTTCCTAACAATGAGCATT TAAGTACAAAAAAATTTTACTGAGAAACTTTTTGATGTTCATGTAAGAAA GAGAGCAACGGTTATAAATAACATTATCGGTGACCAGCTTAGAACTCACT CATAGGAATCACAATTTGACTTAGCCATTCCACA	T T	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0186 a0001c0001t0017g0186	1	258	0.0039	-833	c.1-3 others(13): Show c.1-3785_1-2953del	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	1/31			chr12	TogoVar
FLNB_chr3_58003422_58177251	58163939	AAAGTGAG others(825): Show AAAGTGAGACTCACTCCATCTTCTCTCCTCCTCCCCCACCTGGGTCTGGA AGCAAACGGCTCTGGGAAGGGAGGACCTTCACCCTGTCTGTCATCTCATT GTCTGTCTTCATTCTTGGTTGCTGGGTTGGTTAGCTAATTGGTTCATTAG ACAAGCAGACACAGAGTTTTGCTTTTGTCTTACAGAAAGAATCTTACTGT ATCCACTGTGTGGTATAGCTTGTGTTTTTGCTTTGACATCTTAAAGATCT TTCCATGTCAGAACAGATCTTCCCCTCCTTTTCCTGGCTGTAGTGAGAAT TCCTGCTGTGAATCGCAGTTATTTGAACAGGTGGCATCGGGTGGTGCGCA GTGAGTGCGTCACTGTTATGGAGGCTGCCAGGGTGGAGAGTCAGTCCTTA GTCTTTGCAGGGGAAGTGCGCAGTGTGGACTCACTGGGGCATGTTTGCAT TTGGTGTTACTTTGGACCCTCTTGGGAAAGCAGTATGTCCTGGTTTCTTG AGTCTCTTGTGTGTGTACCCCCACCCCGCATAAGGAGAGTGGGATGGAGC AGACTTGCCTCCCAGGGGTGAGGGGTGAGTGGCTGCATGGTTGCCTGGCA TCCAGCCCTAGGAGCAAGTGACCTGTGTGGCCAAGGGGCCCTCTCCGGGT GCAGGAGTGACTGGTGGGCTGGCAGGCTGCCCGGGACTCTGGCCAAAGCA GTGGCCTCAGCAAAGCCACCCACAGGGGTGGTGTGAGTGCTGCCAGACTC CCCAGGCAAATCCAGCCCGGCTCCACGCTGAACTCTGGGCCTGCGGCTTG CCTTTTGTGAAAGGCATGGTATCATTTTACCGT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0036 a0002c0036	a0002c0036t0009 a0002c0036t0009	a0002c0036t0009g0071 a0002c0036t0009g0071	1	178	0.0056	-832	c.719 others(18): Show c.7198+616_7198+1447del	FLNB	ENSG00000136068.16	transcript	ENST00000295956.9	protein_coding	43/45		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMF1_chr16_848634_975984	904218	AGGACGCC others(825): Show AGGACGCCTGTCTCTGCTGCGTCGTGGTGACCTCTGCATCGCCCACAGGA CGCCTGTCTCTGATGTGTGGTGGTGACCTCTGCACTGCCTGTGGGGACGC CTGTCTCTGCTGCGTGGTGGTGACCTCTGCATCGCCCACAGGACGCCTGT CTCTGCTGCGTGGGGTGACCTCTGCATCGCCCACAGGACGCCTGTCTCTG CTGCGTGGTGGTGACCTCTGCACTGCCTGTGGGGACGCCCGTCTCTGCTG CGTGGTGGTGACCTCTGCACCGCCCACAGGACGCCTGTCTCTGCTGCGTG GTGGTGACCTCTGCATCGCCCACAGGACGCCTATCTCTGCTGTGTGGTGG TGACCTTTGCACTGCCCGTGGGGACGCCTGTCTCTGCTGCGTGGTGGTGA CCTCTGCACTGCCTGTGGGGACGCCCGTCTCTGCTGTGTGGTGGTGACCT CTGCATCGCCCACAGGACGCCTGTCTCTGCTGCGTGGGGTGACCTCTGCA TCGCCCACAGGACGCCTGTCTCTGCTGCGTGGTGGTGACCTCTGCACCGC CCACAGGACGCCTGTCTCTGCTGTGTGGTGGTGACCTCTGCACTGCCCGT GGGGACGCCTGTCTCTGCTGCGTGGTGGTGACCTCTGCACTGCCTGTGGG GACGGCCGTCTCTGCTGCGTGGTGGTGACCTCTGCATCGCCCACAGGACG CCTGTCTCTGCTGCGTGGGGTGACCTCTGCATCGCCCACAGGACGCCTGT CTCTGCTGCGTGGTGGTGACCTCTGCACCGCCCACAGGACGCCTGTCTCT GCTGTGTGGTGGTGACCTCTGCACTGCCCGTGG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp1 HG02818.hp2 HG02257.hp1 HG02280.hp1 HG02818.hp2	a0001 a0005 a0001 a0005	a0001c0023 a0005c0025 a0001c0023 a0005c0025	a0001c0023t0001 a0005c0025t0007 a0001c0023t0001 a0005c0025t0007	a0001c0023t0001g0246 a0005c0025t0007g0259 a0005c0025t0007g0294 a0001c0023t0001g0246 a0005c0025t0007g0259 a0005c0025t0007g0294	3	286	0.0105	-832	c.663 others(17): Show c.663+5881_663+6712del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
SMOC2_chr6_168436184_168672992	168560525	TGGAGGAG others(825): Show TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATT CTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCA TTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTG CATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCAC TGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTC ACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTC TCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGC TCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAG GCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACG AGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACA CGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGA CACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGA GACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCT GAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCC CTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATA CCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGTGTTCTC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	156	0.0064	-832	c.637 others(19): Show c.637+11473_637+12304del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG2_chr2_945849_1372613	1106837	CCTTGGTA others(825): Show CCTTGGTAAGAGTGGTCACGTGCTGTCACTCGGGTGCAGGGTATGGAGAG CTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAG AGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGG AGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTAT GGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGT ATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGG GTATGGAGAGCTCCTTGATAATAATGGACACGTGCTGTCACTCGGGTGCA GGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTG CAGGGTATGGAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGG TGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCG GGTGCAGGGTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACT CGGGTGCAGGGTATGGAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCA CTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGTCACGTGCTGT CACTCGGGTGCAGGGTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCT GTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGTAATAGTGGACACGTG CTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGACACG TGCTGTCACTCGGGTGCAGGGTATGGAGAGCTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG01074.hp1 others(20): Show HG00140.hp2 HG00642.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01261.hp1 HG01516.hp1 HG01516.hp2 HG02109.hp1 HG02148.hp1 HG02165.hp1 HG02647.hp1 HG02886.hp2 HG02895.hp2 HG03486.hp2 HG03831.hp1 HG04115.hp2 NA18969.hp2 NA19030.hp2 NA19084.hp1 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0013 a0020	a0001c0001 a0001c0002 a0002c0003 others(7): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0003c0007 a0004c0004 a0005c0006 a0007c0017 a0013c0018 a0020c0021	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(8): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0002c0005t0001 a0003c0007t0001 a0003c0007t0002 a0004c0004t0001 a0005c0006t0001 a0007c0017t0001 a0013c0018t0001 a0020c0021t0001	a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0078 others(20): Show a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0078 a0001c0001t0001g0111 a0001c0001t0001g0178 a0001c0002t0001g0113 a0001c0002t0001g0120 a0001c0002t0001g0137 a0002c0003t0001g0053 a0002c0003t0001g0055 a0002c0003t0001g0154 a0002c0005t0001g0021 a0002c0005t0001g0164 a0002c0005t0001g0168 a0003c0007t0001g0184 a0003c0007t0002g0077 a0004c0004t0001g0149 a0005c0006t0001g0189 a0007c0017t0001g0106 a0007c0017t0001g0125 a0013c0018t0001g0045 a0013c0018t0001g0046 a0020c0021t0001g0119	23	166	0.1386	-832	c.325 others(17): Show c.325+8436_325+9267del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1107522	TAGTGGAC others(825): Show TAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGT AATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTG GTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCT TGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTC CTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGC TCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGA GCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGA GAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATG GAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTA TGGAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGG TATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAG GGTATGGAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGC AGGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGT GCAGGGTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGG GTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTC GGGTGCAGGGTATGGAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCAC TCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAG	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0072 a0003c0008t0002g0072	1	153	0.0065	-832	c.325 others(17): Show c.325+9112_325+9943del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16			chr2	TogoVar
THEG_chr19_356747_381026	360105	CAGGAGCG others(825): Show CAGGAGCGTCGGCTGCTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTC CCGTGGGCTCTCAGCAGGAGCGTCGGCTGGTTTGACCGTGGCTGTCGTTC TGACTCTGATGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGCTTTGAC TGTGGCTGTCGTTCCTACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCG TCGGCTGCTTTGACCGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGGC TCTCAGCAGGAGCGTCGGCTGGTTTGACCGTGGCTGTCGTTCTGACTCTG ATGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTG TCGTTCCGACTCTGACGGTCCCGTGGGCCCTCAGGAGGAGCATCAGCTGG TTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGGCCCTCAGGA GGAGCATCAGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCC GTGGGCCCTCAGGAGGAGCATCAGCTGGTTTGACTGTGGCTGTCGTTCCG ACTCTGACAGTCCCGTGGGCCCTCAGGAGGAGCGTCGGCTGGTTTGACTG TGGCTGTCGTTCCTACTCCGACGGTCCCGTGGCCCCTCAGCAAGAGCATC GGCTGGTTTGACTGTGGCTGTCGTTCCGACTCTGACGGTCCCGTGGGCTC TCAGGAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCTACTCCGAC GGTCCCGTGGCCCCTCAGCAGGAGCATCGGCTGGTTTGACTGTGGCTGTC GTTCCGACTCCGACGGTCCCGTGGGCTCTCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0149 a0001c0001t0036g0149	1	368	0.0027	-832	c.12 others(11): Show c.1263_*2094del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1641		chr19	TogoVar
THEG_chr19_356747_381026	360163	TCTCAGCA others(825): Show TCTCAGCAGGAGCGTCGGCTGGTTTGACCGTGGCTGTCGTTCTGACTCTG ATGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGCTTTGACTGTGGCTG TCGTTCCTACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGC TTTGACCGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGGCTCTCAGCA GGAGCGTCGGCTGGTTTGACCGTGGCTGTCGTTCTGACTCTGATGGTCCC GTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCG ACTCTGACGGTCCCGTGGGCCCTCAGGAGGAGCATCAGCTGGTTTGACTG TGGCTGTCGTTCCGACTCCGACGGTCCCGTGGGCCCTCAGGAGGAGCATC AGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGGCCC TCAGGAGGAGCATCAGCTGGTTTGACTGTGGCTGTCGTTCCGACTCTGAC AGTCCCGTGGGCCCTCAGGAGGAGCGTCGGCTGGTTTGACTGTGGCTGTC GTTCCTACTCCGACGGTCCCGTGGCCCCTCAGCAAGAGCATCGGCTGGTT TGACTGTGGCTGTCGTTCCGACTCTGACGGTCCCGTGGGCTCTCAGGAGG AGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCTACTCCGACGGTCCCGT GGCCCCTCAGCAGGAGCATCGGCTGGTTTGACTGTGGCTGTCGTTCCGAC TCCGACGGTCCCGTGGGCTCTCAGGAGGAGCGTCGGCTGGTTTGACTGTG GCTGTCGTTCCGACTCTGACAGTCCCGTGGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0034 a0001c0004t0034	a0001c0004t0034g0132 a0001c0004t0034g0132	1	350	0.0029	-832	c.12 others(11): Show c.1205_*2036del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1583		chr19	TogoVar
THEG_chr19_356747_381026	360179	GGCTGGTT others(825): Show GGCTGGTTTGACCGTGGCTGTCGTTCTGACTCTGATGGTCCCGTGGCCCC TCAGCAGGAGCGTCGGCTGCTTTGACTGTGGCTGTCGTTCCTACTCCGAC GGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGCTTTGACCGTGGCTGTC GTTCCGACTCCGACGGTCCCGTGGGCTCTCAGCAGGAGCGTCGGCTGGTT TGACCGTGGCTGTCGTTCTGACTCTGATGGTCCCGTGGCCCCTCAGCAGG AGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCTGACGGTCCCGT GGGCCCTCAGGAGGAGCATCAGCTGGTTTGACTGTGGCTGTCGTTCCGAC TCCGACGGTCCCGTGGGCCCTCAGGAGGAGCATCAGCTGGTTTGACTGTG GCTGTCGTTCCGACTCCGACGGTCCCGTGGGCCCTCAGGAGGAGCATCAG CTGGTTTGACTGTGGCTGTCGTTCCGACTCTGACAGTCCCGTGGGCCCTC AGGAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCTACTCCGACGG TCCCGTGGCCCCTCAGCAAGAGCATCGGCTGGTTTGACTGTGGCTGTCGT TCCGACTCTGACGGTCCCGTGGGCTCTCAGGAGGAGCGTCGGCTGGTTTG ACTGTGGCTGTCGTTCCTACTCCGACGGTCCCGTGGCCCCTCAGCAGGAG CATCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGG GCTCTCAGGAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTC TGACAGTCCCGTGGGCCCTCAGGAGGAGCATCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0227 a0001c0001t0003g0227	1	355	0.0028	-832	c.11 others(11): Show c.1189_*2020del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1567		chr19	TogoVar
PPP1R12C_chr19_55085918_55122637	55093394	TCCTCCCT others(824): Show TCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACC CAGGAGTCCAGACCTCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGC CCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCTCCAGCCCCTCCT CCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGG AGTCCAGACCTCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGACCCCA GCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTC AGACCCAGGAGCCCAGACCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCC AGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGACCCCAGCCCCT CCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCC AGGAGTCCAGACCTCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGACC CCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCC CTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAG TCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCTCCAGC CCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAG ACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAG GCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCTCCAGCCCCTC CTCCCTCAGACCCAGGAGTCCAGGCCCCAGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(149): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02145.hp1 HG02155.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02451.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18944.hp1 NA18947.hp2 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18973.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18989.hp2 NA18990.hp2 NA18994.hp2 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19057.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19077.hp2 NA19084.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp2 NA20905.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0011 a0001c0018 a0001c0022 a0001c0024 a0004c0021 a0006c0026	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(8): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0009t0001 a0001c0011t0005 a0001c0018t0001 a0001c0022t0001 a0001c0024t0001 a0004c0021t0001 a0006c0026t0001	a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0023 others(98): Show a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0133 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0002t0001g0001 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0043 a0001c0002t0001g0112 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0142 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0217 a0001c0002t0001g0246 a0001c0002t0001g0253 a0001c0002t0001g0263 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0004t0001g0002 a0001c0004t0001g0020 a0001c0004t0001g0039 a0001c0004t0001g0040 a0001c0004t0001g0132 a0001c0004t0001g0199 a0001c0004t0001g0201 a0001c0004t0001g0202 a0001c0004t0001g0203 a0001c0004t0001g0204 a0001c0004t0001g0205 a0001c0004t0001g0206 a0001c0004t0001g0207 a0001c0004t0001g0208 a0001c0004t0001g0209 a0001c0004t0001g0211 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0001g0214 a0001c0004t0001g0216 a0001c0004t0001g0218 a0001c0004t0001g0257 a0001c0009t0001g0242 a0001c0009t0001g0243 a0001c0011t0005g0054 a0001c0018t0001g0067 a0001c0022t0001g0195 a0001c0024t0001g0196 a0004c0021t0001g0252 a0006c0026t0001g0267	152	388	0.3918	-831	c.168 others(17): Show c.1683+120_1684-162del	PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	13/21			chr19	TogoVar
PPP1R12C_chr19_55085918_55122637	55093467	TCCTCCCT others(824): Show TCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACC CAGGAGTCCAGACCTCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGC CCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCTCCAGCCCCTCCT CCCTCAGACCCAGGAGCCCAGACCCCAGCCCCTCCTCCCTCAGACCCAGG AGCCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGACCCCAG CCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCA GACCCAGGAGCCCAGACCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCA GGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCTCCAGCCCCT CCTCCCTCAGACCCAGGAGCCCAGACCCCAGCCCCTCCTCCCTCAGACCC AGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCC CAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCC TCAGACCCAGGAGTCCAGACCTCCAGCCCCTCCTCCCTCAGACCCAGGAG TCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCC CCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGA CCCAGGAGTCCAGACCTCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAG GCCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGGCCCCCAGCCCCTC CTCCCTCAGACCCAGGAGTCCAGGCCCCAGCC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA21309.hp1 HG02818.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0118 a0001c0001t0001g0119	2	388	0.0052	-831	c.168 others(16): Show c.1683+47_1684-235del	PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	13/21			chr19	TogoVar
PRKCA_chr17_66297613_66815743	66798503	GTGGTGAC others(824): Show GTGGTGACGGTGGTGACGGTGGTGGTGATGGTGGTGACGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGACGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGATGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02148.hp2 NA19085.hp2 NA19091.hp1 HG02148.hp2 NA19085.hp2 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0006 a0001c0002t0014 a0001c0004t0058 a0001c0002t0006 a0001c0002t0014 a0001c0004t0058	a0001c0002t0006g0036 a0001c0002t0014g0009 a0001c0004t0058g0174 a0001c0002t0006g0036 a0001c0002t0014g0009 a0001c0004t0058g0174	3	171	0.0175	-831	c.185 others(19): Show c.1855-5364_1855-4534del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
SDK2_chr17_73329384_73649445	73373872	GGTGATCT others(824): Show GGTGATCTGCCTACCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAG CCACCGTGCCCAGCCTATGTATCTTCTTTTGAGAAATGTCCATTTGGGTC CTTTGCCCCATTTTCTTTCACTTTTGTTGTATGAGTTCCTTACATATTTT GGCTACTAACCCCTGGTCATATGTATGGTTTGCAAATATTTCTCCCATTC CAGAGGTTCTCCCTCCTTCTGGAAGCATGTTCTTCCCATGAGCTCTGAGA CATCACTCAGTTTTTGGTTTCAGGGCTCAATTTGTAGACTTCTTTTGTTC TTTATCTTTCCTTGTCTAATCTCTAGCTTTCAGTACCATCTATATGCCGA GGACTCTATAATTCACATCTCTGGTTTGATCCTTCTCTCTTGAACTCCAG ACATGCATCTCTGACTCTGTTCTGTCTCCCCTCGAATGTCCAACAGACGT CTCAAACCAAACACATCTGGAACCAGACTCCAGATTTCCCTAGCCTCCTC CTTCACCAGCTTTGTCTTTTCCTGCTCCATCATCCTGTGGACCCTGGGGC TGTCCTTGTTGCCTCCCTTTTCTCCCATTCCATGTTCGATTTGTCGGTAA TTTTTTTTTTTTTTGAGATGGGGTCTCGCTCTGTTGCCCAGGCTGGAGTA CAGTGGCGTGATCTTGGTGCACTGCAACCTCTGCCTTCTGGGTTCAAGGG ATTCTTTTGCCTCAGCCTCCCCAGTAGCTGGAATTACAAGCATGCGCTAC CATACCCAGCTAATTTTTGTATTTTTAGTAGAGATGCGGTTTCGTCATGT TGGCCAGGCTGGTCTCGAACTCCTGACCTCAA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00738.hp2 HG01074.hp1 others(50): Show HG00438.hp2 HG00738.hp2 HG01074.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01981.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02698.hp1 HG02886.hp2 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03942.hp1 HG04184.hp2 NA18942.hp1 NA18942.hp2 NA18961.hp2 NA18970.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19066.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19240.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0005 a0011 a0016 a0021 a0023 a0025 a0027	a0001c0001 a0001c0002 a0001c0003 others(33): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0010 a0001c0014 a0001c0016 a0001c0018 a0001c0023 a0001c0024 a0001c0035 a0001c0041 a0001c0043 a0001c0046 a0001c0067 a0001c0070 a0001c0084 a0001c0109 a0002c0028 a0002c0031 a0004c0011 a0004c0027 a0004c0040 a0005c0012 a0005c0037 a0005c0065 a0011c0063 a0011c0108 a0016c0057 a0021c0096 a0023c0058 a0025c0055 a0027c0114	a0001c0001t0001 a0001c0001t0015 a0001c0001t0068 others(46): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0068 a0001c0002t0001 a0001c0002t0065 a0001c0002t0096 a0001c0003t0002 a0001c0003t0051 a0001c0004t0001 a0001c0004t0082 a0001c0005t0001 a0001c0005t0017 a0001c0005t0024 a0001c0006t0018 a0001c0008t0085 a0001c0010t0001 a0001c0010t0008 a0001c0010t0043 a0001c0014t0004 a0001c0014t0006 a0001c0016t0028 a0001c0018t0008 a0001c0018t0017 a0001c0023t0017 a0001c0024t0006 a0001c0035t0056 a0001c0041t0099 a0001c0043t0033 a0001c0046t0093 a0001c0067t0014 a0001c0070t0083 a0001c0084t0088 a0001c0109t0049 a0002c0028t0060 a0002c0031t0006 a0004c0011t0018 a0004c0027t0011 a0004c0027t0024 a0004c0040t0028 a0005c0012t0058 a0005c0037t0057 a0005c0065t0013 a0011c0063t0025 a0011c0108t0040 a0016c0057t0003 a0021c0096t0044 a0023c0058t0067 a0025c0055t0066 a0027c0114t0094	a0001c0001t0001g0013 a0001c0001t0001g0130 a0001c0001t0015g0050 others(50): Show a0001c0001t0001g0013 a0001c0001t0001g0130 a0001c0001t0015g0050 a0001c0001t0015g0073 a0001c0001t0068g0012 a0001c0002t0001g0048 a0001c0002t0001g0114 a0001c0002t0065g0177 a0001c0002t0096g0125 a0001c0003t0002g0076 a0001c0003t0051g0047 a0001c0004t0001g0112 a0001c0004t0082g0169 a0001c0005t0001g0053 a0001c0005t0017g0106 a0001c0005t0024g0189 a0001c0006t0018g0111 a0001c0008t0085g0143 a0001c0010t0001g0036 a0001c0010t0008g0059 a0001c0010t0043g0070 a0001c0014t0004g0171 a0001c0014t0006g0115 a0001c0016t0028g0009 a0001c0018t0008g0157 a0001c0018t0017g0153 a0001c0023t0017g0187 a0001c0024t0006g0152 a0001c0035t0056g0066 a0001c0041t0099g0127 a0001c0043t0033g0003 a0001c0046t0093g0045 a0001c0067t0014g0025 a0001c0070t0083g0005 a0001c0084t0088g0015 a0001c0109t0049g0007 a0002c0028t0060g0018 a0002c0031t0006g0123 a0002c0031t0006g0158 a0004c0011t0018g0183 a0004c0027t0011g0035 a0004c0027t0024g0033 a0004c0040t0028g0129 a0005c0012t0058g0041 a0005c0037t0057g0148 a0005c0065t0013g0067 a0011c0063t0025g0167 a0011c0108t0040g0195 a0016c0057t0003g0172 a0021c0096t0044g0155 a0023c0058t0067g0162 a0025c0055t0066g0063 a0027c0114t0094g0179	53	202	0.2624	-831	c.498 others(19): Show c.4980+4474_4981-5280del	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	36/44			chr17	TogoVar
DPH7_chr9_137549444_137583925	137567019	CTCTGTCT others(823): Show CTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTC CCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGA GGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT CTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCC CGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAA GCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGT CTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGT GACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGC TCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCT GTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGA CTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCC CTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGA GGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCT GTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCCGTGAGGAAGCTCCCCG GGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGG AAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCT GTCTGTGAGGAAGCTCCCCTGGGTGACTCTG	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	328	0.0030	-830	c.641 others(17): Show c.641-2695_641-1866del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
LIN28B_chr6_104952107_105088332	105050575	GTCCAGCC others(823): Show GTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAGAATGTTGAACATTGGCCCCCACTCTCTTCTGGCTTGTAG AGTTTCTGCCGAGAGATCTGCTGTTAGTCTGATGGGCTTCCCTTTGTTAT TTTACAATGTTTTACATCACTGTATATTTTTGTATTATCAGGACAATGGC CTCATAAATTTTCTTAAAATTTTTTTTTCTTTTAGACAGAGATCACCAAA ATCTCTGAGAAATGTTGATTTTGGTACTTGGTTTTATTAGGAAGTTCAAG ACAAGATATAAAATATGTAAGACTGTGTTTTACAAATGATGCTTTAAAAC ATATATAGGGCTAGGAGTGGTGGCTCATGGCTGTAATCCCAGCACTTTGG GAAGCTAAGGTGGGAGGATCGCTTGAGACCAGGAGTTTGAGACCAGCCTA GACAACCAAGCAAGACCTTAGATTAAAAAACAAAAGAAAGAAAAGAAATG GTATATAGGATTCATGTAGACTAATAAGTAAATATATCTAAAAGAAAAAA ATGTAGTTAATAATGAGTAAAAGAAAAAGCTGCGGGCTGGGCACAGTGGC TCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGTCGGGTGGATCATGA GGTCAGGAGATTGAGACCAGCCTGGCCAACATGGTGAAACCCTATCTCTA CTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGTGCACCTGTAATCCCA GCTACTCAGGAGGGTAAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAG GTTGCAGTGAGCTGAGATCGTGCCATTGCAC	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02976.hp1 HG03209.hp1 HG02615.hp2 HG02976.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0017 a0001c0001t0009g0061 a0001c0001t0009g0227 a0001c0001t0009g0017 a0001c0001t0009g0061 a0001c0001t0009g0227	3	276	0.0109	-830	c.383 others(19): Show c.383+24126_383+24955del	LIN28B	ENSG00000187772.8	transcript	ENST00000345080.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP2R2D_chr10_131896008_131964834	131952311	GTGCGGGG others(823): Show GTGCGGGGGGTTCACTGTCTTAGTGATTTGCATGTGTGGGGGGGGTTCAC TGTCTTAGTGACTTGCGGGTGTGCGGGGGTTCACTGTCTTAGTGACTTGC GGGTGTGCGGGGGTTCACTGTCTTAGCAGTGACTTGTGGGTGTGCGGGGG TTCACTGTCTTAGTGACTTGGTGTGCGGGGGGGTTCACTGTCTTAGTGAC TTGTGGGTGTGCGGGTGGTTCACTGTCTTAGTGACTTGCGGGTGTGCGGG GGGTTCACTAGTGACTTGCGGGTGTGCGGGGGGTTCACTGTCTTAGTGAC TTGCGGGTGTGCGGGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCGGG GGGGTTCACTTAGTGACTTTCGGGTGTGTGGGGGTTCACTGTCTTAGTGA CTTGCGGGTGTGCGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCGGGG GGTTCACTGTCTTAGTGACTTGCGGGTGTGCAGGGGGTTCACTTAGCAGT GACTTGCGGGTGTGTGTGTGGGGTTCACTGTCTTAGCAGTGACTTGCGGG GGGGGTCCCTGTCTTATCAGTGACTTGCGGGTGTGTGTGGGGGGTTCACT GTCTTAGCAGTGACTTGCGGGGGGGGTCCCTGTCTTATCAGTGACTTGCG AGTGTGCGGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCAGGGGGTTC ACTGTCTTAGTGACTTGCGGGTGTGCAGGGGGTTTCACTGTCTTAGCAGT GACTTGCGGGTGTGTGTGGGAGGTTCACTGTCTTAGCAGTGACTTGCGGG GGTTCCCTGTCTTAGCAGTGACTTGCAGGTT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02738.hp2 HG03195.hp1 others(8): Show HG02257.hp2 HG02738.hp2 HG03195.hp1 NA18939.hp2 NA18940.hp1 NA18961.hp2 NA18972.hp1 NA18998.hp1 NA19000.hp2 NA19007.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0251 a0001c0001t0002g0252 others(7): Show a0001c0001t0002g0035 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261	11	392	0.0281	-830	c.108 others(19): Show c.1083-3364_1083-2535del	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAD1L1_chr7_1810795_2237945	1904515	CGGAACTC others(822): Show CGGAACTCATGATTGATCAAGCACTGTTCCAGGCAGCGAGGACGCAGTGG CCTACGGAAGACGCTCTTGCAGAATTCATGATTAATGAAGCATTGTTCCA GGCAGCGAGGATGCAGTGGCCTATGGAAGACGCTCTTGCGGAATTCATGA TTAATGAAGCACTGTTCCAGGCAGCGAGGACGCAGTGGCCTATGGAAGAC GCTCTTGCGGAACTCATGATTGATCAATCACTGTTCCAGGCAGCAAGCAC GCAGTGGCCTATTGAAGACGCTCCTGCGGAACTCATGATTGATCAAGCAC TGTTCCAGGCAAGCGAGGACGCAGTGGCCTATGGAAGACGCTCTTGCAGA ACTCATGATTGATGAAGCACTGTTCCAGGCAGCAAGGATGCAGTCGCCTA TGGAAGACGTTCTTGTGGAACTCATGATTGATGAAGCACTATTCCAGGCA GCAAGGACACAGTGGCCTACGGAAGACGCTCTTGAGGAACTCATGATTGA TAAAGCACTGTTCCAGGCAGCAAGGATGCAGTGGCCTATGGAAGACGTTC TTGTGGAACTCATGATTGATGAAGCACTGTTCCAGGCAGCGAGGACGCAG TGGCCTACGGAAGACGCTCTCGCGGAATTCATGATTGATGAAGCACTGTT CCAGGCAGTGAGGACGCAGTGGCCTACGGAAGACGCTCTTGCGGAATTCA TGATTGATGAAGCACTGTTCCAGGCAGCGAGGACGCAGTGGCCTACGGAA GACGCTCTTGCGGAACTCATGATTGATAAAGCACTGTTCCAGGCAGCAAG GATGCAGTGGCCTATGGAAGACGTTCTTGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG01070.hp2 others(59): Show HG00280.hp1 HG00639.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01243.hp2 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01978.hp2 HG02040.hp1 HG02055.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03139.hp1 HG03209.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG04199.hp1 HG04204.hp1 NA18522.hp2 NA18954.hp2 NA18967.hp2 NA18999.hp2 NA19081.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0005 others(1): Show a0001c0001 a0001c0003 a0002c0005 a0003c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0002c0005t0002 a0003c0014t0001	a0001c0001t0001g0074 a0001c0001t0001g0101 a0001c0001t0001g0102 others(59): Show a0001c0001t0001g0074 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0235 a0001c0001t0001g0243 a0001c0001t0002g0055 a0001c0001t0002g0103 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0122 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0201 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0239 a0001c0001t0007g0143 a0001c0001t0009g0247 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0002g0083 a0001c0003t0007g0145 a0002c0005t0002g0121 a0003c0014t0001g0067	62	262	0.2366	-829	c.180 others(19): Show c.1808-6954_1808-6126del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar

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