Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
HCN2_chr19_584881_622159	602360	T T	TCTCTCCT others(450): Show TCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCC CCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCT CCTCTCTC	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA18950.hp2 NA18951.hp2 HG02300.hp2 NA18950.hp2 NA18951.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0004 a0001c0001 a0001c0008 a0002c0004	a0001c0001t0001 a0001c0008t0002 a0002c0004t0001 a0001c0001t0001 a0001c0008t0002 a0002c0004t0001	a0001c0001t0001g0182 a0001c0008t0002g0082 a0002c0004t0001g0261 a0001c0001t0001g0182 a0001c0008t0002g0082 a0002c0004t0001g0261	3	408	0.0074	457	c.633 others(474): Show c.633-1181_633-1180insTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCT CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTT CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HSPA12A_chr10_116666192_116747566	116732328	C C	CAAACAAA others(450): Show CAAACAAACAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAGAAGAAAGAAAGAAAGAAAGAAA GAAAGAAGAGAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAG AAAGAAAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	320	0.0031	457	c.40+ others(474): Show c.40+10101_40+10102insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCTCTCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTGTTTGTTT	HSPA12A	ENSG00000165868.16	transcript	ENST00000369209.8	protein_coding	1/11			chr10	TogoVar
IQSEC3_chr12_61767_183455	103430	T T	TGGCTCAG others(450): Show TGGCTCAGGAGGGGAGGCGGGGCTCAGGCAGGAGAGGCAGGGCTCAGGAG GGGAGGCGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGAC TCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGTAGGT GGGGGCTCAGGAGGGGAGGTGGGGCTCAGGAGGGAGAGGTGGAGTTCAGG GGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGG CTCAGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGAGGGAGA GGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGAGGGGAGGCGGGGCTCAGG AGGGGAGGCGGGGCTCAGGCAGGAGAGGCAGGGCTCAGGAGGGGAGGCAG GACTCAGGAGGGAGAGGTGGAGTTCAGGAGGGGAGGCAGGGCTCAGGAGG GGAGGCGG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0047 a0002c0001t0002g0047	1	282	0.0036	457	c.623 others(474): Show c.623+4253_623+4254insAGGGCTCAGGAGGGGAGGCGGGGCTCGG GGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGAGGGAGAGGTG GAGTTCGGTGGGGAGGCAGGGCTCAGGGGTAGGTGGGGGCTCAGGAGGGG AGGTGGGGCTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCGGGGCTCA GGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGTAGGTGGG GGCTCAGGAGGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCGGTGGG GAGGCAGGGCTCAGGAGGGGAGGCGGGGCTCAGGAGGGGAGGCGGGGCTC AGGCAGGAGAGGCAGGGCTCAGGAGGGGAGGCAGGACTCAGGAGGGAGAG GTGGAGTTCAGGAGGGGAGGCAGGGCTCAGGAGGGGAGGCGGGGCTCAGG AGGGGAGGCGGGGCTCAGGCAGGAGAGGC	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KCNK2_chr1_215077737_215242090	215209590	T T	TATATAAA others(450): Show TATATAAAATAGATATATATAAAATATATAAAATAGATATTATATATAAA ATATATATAATATATATATAAAATAGATATTATATATAAAATATATATTA TATATTATATAAAATATATATTATATATTATATAATATATAATATATATT ATATATATTATATATTATATATTAAATATATATTATATATATAAAATATA TATAAAATATATATTATATAAAATATATATAAAATATATATTATATAAAA TATATATAAAATATATAATATATATAAAATATATACTATATATAAAATAT ATAATATATATAAAATATATACTATATATAAAATATATACTATATATAAA ATATATACTATATATAAAATATATACTATATATAAAATATATACTATATA TAAAATATATACTATATATAAAATATATATTATATATAAAATATATACTA TATATAAA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0223 a0001c0001t0002g0223	1	260	0.0039	457	c.963 others(476): Show c.963+14503_963+14504insAAATAGATATATATAAAATATATAAA ATAGATATTATATATAAAATATATATAATATATATATAAAATAGATATTA TATATAAAATATATATTATATATTATATAAAATATATATTATATATTATA TAATATATAATATATATTATATATATTATATATTATATATTAAATATATA TTATATATATAAAATATATATAAAATATATATTATATAAAATATATATAA AATATATATTATATAAAATATATATAAAATATATAATATATATAAAATAT ATACTATATATAAAATATATAATATATATAAAATATATACTATATATAAA ATATATACTATATATAAAATATATACTATATATAAAATATATACTATATA TAAAATATATACTATATATAAAATATATACTATATATAAAATATATATTA TATATAAAATATATACTATATATAAAATATA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
LONP2_chr16_48239300_48362349	48247412	A A	AGAGCAGC others(450): Show AGAGCAGCAGAAGTAATTTGCTCCCAGCGTTCTTTGCCACATAGAGTGGC AGGGTTAAATGATTTAAAATTTAATCATTTAAATTAGAAAACATAGATTG AAAACTCTTCATAGAATTCCAGCATTAAAAGAACTCATCAGACCATCTAG TTATCCTAGAAGTATTGTTTGCTACTTCAAAAGCCTATGTGGAAAGATTG TACGATATTCCTTGGTAATAGTTTCGAATGTCTTTTTTTCTCTAATATGG CTTTTAAAGCACTCTACTTAAAAAAAAAAAAAGCTTTAATAATACCAATA CCGAGTTATCCACAGTATTAGTCTGTTTCCATGCACAAATCTGTCCTTCC CCAGTTACCTGCTTTTCTGTATGGTAGCCCAGAGGTGAGATGAGGGGCTC TGTTCCTGTCTCTTGTTTCCTTTACACCATCCAGGTGACACTGGCTGCAG CCTTCAAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03453.hp2 HG03471.hp1 HG02896.hp1 HG03453.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0030 a0001c0001t0062 a0001c0006t0038 a0001c0001t0030 a0001c0001t0062 a0001c0006t0038	a0001c0001t0030g0146 a0001c0001t0062g0145 a0001c0006t0038g0147 a0001c0001t0030g0146 a0001c0001t0062g0145 a0001c0006t0038g0147	3	154	0.0195	457	c.233 others(474): Show c.233+2831_233+2832insTAGAGTGGCAGGGTTAAATGATTTAAAA TTTAATCATTTAAATTAGAAAACATAGATTGAAAACTCTTCATAGAATTC CAGCATTAAAAGAACTCATCAGACCATCTAGTTATCCTAGAAGTATTGTT TGCTACTTCAAAAGCCTATGTGGAAAGATTGTACGATATTCCTTGGTAAT AGTTTCGAATGTCTTTTTTTCTCTAATATGGCTTTTAAAGCACTCTACTT AAAAAAAAAAAAAGCTTTAATAATACCAATACCGAGTTATCCACAGTATT AGTCTGTTTCCATGCACAAATCTGTCCTTCCCCAGTTACCTGCTTTTCTG TATGGTAGCCCAGAGGTGAGATGAGGGGCTCTGTTCCTGTCTCTTGTTTC CTTTACACCATCCAGGTGACACTGGCTGCAGCCTTCAAGGAGCAGCAGAA GTAATTTGCTCCCAGCGTTCTTTGCCACA	LONP2	ENSG00000102910.14	transcript	ENST00000285737.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
LONP2_chr16_48239300_48362349	48247412	A A	AGAGCAGC others(450): Show AGAGCAGCAGAAGTAATTTGCTCCCAGCGTTCTTTGCCACATAGAGTGGC AGGGTTAAATGATTTAAAATTTAATCATTTAAATTAGAAAACATAGATTG AAAAGTCTTCATAGAATTCCAGCATTAAAAGAACTCATCAGACCATCTAG TTATCCTAGAAGTATTGTTTGCTACTTCAAAAGCCTATGTGGAAAGATTG TACGATATTCCTTGGTAATAGTTTCGAATGTCTTTTTTTCTCTAATATGG CTTTTAAAGCACTCTACTTAAAAAAAAAAAAAGCTTTAATAATACCAATA CCGAGTTATCCACAGTATTAGTCTGTTTCCATGCACAAATCTGTCCTTCC CCAGTTACCTGCTTTTCTGTATGGTAGCCCAGAGGTGAGATGAGGGGCTC TGTTCCTGTCTCTTGTTTCCTTTACACCATCCAGGTGACACTGGCTGCAG CCTTCAAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00558.hp1 others(136): Show HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA19043.hp1 NA19043.hp2 NA19068.hp1 NA19068.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0002c0005 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(76): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0051 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0064 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0003t0058 a0001c0003t0059 a0001c0003t0060 a0001c0003t0061 a0001c0004t0063 a0001c0008t0010 a0002c0005t0052 a0003c0007t0007	a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0001g0035 others(134): Show a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0001t0001g0148 a0001c0001t0002g0002 a0001c0001t0002g0023 a0001c0001t0002g0038 a0001c0001t0002g0046 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0097 a0001c0001t0003g0014 a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0055 a0001c0001t0003g0080 a0001c0001t0004g0004 a0001c0001t0004g0107 a0001c0001t0004g0110 a0001c0001t0005g0111 a0001c0001t0005g0128 a0001c0001t0005g0134 a0001c0001t0005g0135 a0001c0001t0006g0129 a0001c0001t0006g0136 a0001c0001t0006g0139 a0001c0001t0007g0130 a0001c0001t0007g0140 a0001c0001t0008g0091 a0001c0001t0008g0092 a0001c0001t0008g0095 a0001c0001t0009g0019 a0001c0001t0009g0020 a0001c0001t0009g0078 a0001c0001t0010g0021 a0001c0001t0010g0042 a0001c0001t0011g0053 a0001c0001t0011g0056 a0001c0001t0012g0045 a0001c0001t0012g0047 a0001c0001t0012g0094 a0001c0001t0013g0099 a0001c0001t0013g0100 a0001c0001t0014g0003 a0001c0001t0014g0101 a0001c0001t0015g0108 a0001c0001t0015g0109 a0001c0001t0016g0131 a0001c0001t0016g0133 a0001c0001t0017g0044 a0001c0001t0017g0074 a0001c0001t0018g0041 a0001c0001t0018g0043 a0001c0001t0019g0016 a0001c0001t0019g0069 a0001c0001t0020g0037 a0001c0001t0020g0063 a0001c0001t0021g0040 a0001c0001t0022g0117 a0001c0001t0023g0115 a0001c0001t0024g0118 a0001c0001t0025g0116 a0001c0001t0026g0114 a0001c0001t0027g0102 a0001c0001t0028g0003 a0001c0001t0029g0113 a0001c0001t0031g0103 a0001c0001t0032g0124 a0001c0001t0033g0150 a0001c0001t0034g0125 a0001c0001t0035g0127 a0001c0001t0036g0104 a0001c0001t0037g0126 a0001c0001t0039g0105 a0001c0001t0040g0119 a0001c0001t0051g0149 a0001c0001t0053g0137 a0001c0001t0054g0142 a0001c0001t0055g0144 a0001c0001t0056g0132 a0001c0001t0057g0143 a0001c0001t0064g0090 a0001c0001t0065g0031 a0001c0001t0067g0068 a0001c0001t0068g0079 a0001c0001t0069g0066 a0001c0001t0070g0057 a0001c0001t0071g0098 a0001c0001t0072g0036 a0001c0001t0073g0022 a0001c0001t0074g0083 a0001c0001t0075g0084 a0001c0001t0076g0064 a0001c0001t0077g0001 a0001c0001t0078g0051 a0001c0001t0079g0024 a0001c0001t0080g0026 a0001c0001t0081g0070 a0001c0001t0082g0027 a0001c0001t0083g0112 a0001c0001t0084g0033 a0001c0001t0085g0048 a0001c0001t0086g0082 a0001c0001t0087g0030 a0001c0001t0088g0032 a0001c0001t0089g0071 a0001c0001t0090g0067 a0001c0001t0091g0106 a0001c0003t0058g0123 a0001c0003t0059g0121 a0001c0003t0060g0122 a0001c0003t0061g0120 a0001c0004t0063g0096 a0001c0008t0010g0058 a0002c0005t0052g0141 a0003c0007t0007g0138	139	154	0.9026	457	c.233 others(474): Show c.233+2831_233+2832insTAGAGTGGCAGGGTTAAATGATTTAAAA TTTAATCATTTAAATTAGAAAACATAGATTGAAAAGTCTTCATAGAATTC CAGCATTAAAAGAACTCATCAGACCATCTAGTTATCCTAGAAGTATTGTT TGCTACTTCAAAAGCCTATGTGGAAAGATTGTACGATATTCCTTGGTAAT AGTTTCGAATGTCTTTTTTTCTCTAATATGGCTTTTAAAGCACTCTACTT AAAAAAAAAAAAAGCTTTAATAATACCAATACCGAGTTATCCACAGTATT AGTCTGTTTCCATGCACAAATCTGTCCTTCCCCAGTTACCTGCTTTTCTG TATGGTAGCCCAGAGGTGAGATGAGGGGCTCTGTTCCTGTCTCTTGTTTC CTTTACACCATCCAGGTGACACTGGCTGCAGCCTTCAAGGAGCAGCAGAA GTAATTTGCTCCCAGCGTTCTTTGCCACA	LONP2	ENSG00000102910.14	transcript	ENST00000285737.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
LRRC23_chr12_6899822_6919229	6909301	T T	TATATATT others(450): Show TATATATTATATCTAATTATATATAATATATATATTATTATATATATAAT AATATATATACAATATATAATTATATATAATATATAATTATATATAATAT ATAATTATATATTATTATATAATATATAATTATATAATATATAATTATAT ATTATATAATAATATATAATTATATAATATATAATTATATATTATATAAA ATATGTAATTATTAATAATATATAATTATATATAATATATAATTATATAT TATATGATAATATATAATTATATATTATATATAATTATATATTATATAAT ATATAATTATATATAATATATAAATATATAATATATAAATATATATAATA TATAAATATATAATATATAAATATATATAATATATAATTATATATAATAT ATAAATATATATAATAGTATATATTATATATAATATATAATAGTATATAT TATATATA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0187 a0004c0004t0005g0187	1	316	0.0032	457	c.622 others(472): Show c.622-583_622-582insTATATCTAATTATATATAATATATATATTA TTATATATATAATAATATATATACAATATATAATTATATATAATATATAA TTATATATAATATATAATTATATATTATTATATAATATATAATTATATAA TATATAATTATATATTATATAATAATATATAATTATATAATATATAATTA TATATTATATAAAATATGTAATTATTAATAATATATAATTATATATAATA TATAATTATATATTATATGATAATATATAATTATATATTATATATAATTA TATATTATATAATATATAATTATATATAATATATAAATATATAATATATA AATATATATAATATATAAATATATAATATATAAATATATATAATATATAA TTATATATAATATATAAATATATATAATAGTATATATTATATATAATATA TAATAGTATATATTATATATAATATAT	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRC27_chr10_132327193_132386508	132364477	C C	CCACCCTT others(450): Show CCACCCTTACATCTACCTCCACACCCACAATTACACCCACGCTTACATCT ACCTCCACACTCGCACTTACACCCACACTTACATCTACCTCCACACCCAC ACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACAC CCACAATTACACCCACGCTTACATCTACCTCCACACTCGCACTTACACCC ACACTTACATCTACCTCCACACCCACACTTACACCCACACTTACATCTAC CTCCACACCCACACTTACACCCACCCACACTTACACCCACGCTTACATCT ACCACACCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTA CCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATC TACCTCCA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0113 a0001c0001t0009g0113	1	290	0.0035	457	c.129 others(474): Show c.1290-942_1290-941insTTACATCTACCTCCACACCCACAATTAC ACCCACGCTTACATCTACCTCCACACTCGCACTTACACCCACACTTACAT CTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACCCTTAC ATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTT ACATCTACCTCCACACCCACAATTACACCCACGCTTACATCTACCTCCAC ACTCGCACTTACACCCACACTTACATCTACCTCCACACCCACACTTACAC CCACACTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTAC ACCCACGCTTACATCTACCACACCCACACTTACACCCACCCACACTTACA CCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTA CACCCACCCTTACATCTACCTCCACACCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364477	C C	CCACCCTT others(450): Show CCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTCAC ACCCACCCTTACATCTACCTCCACACCCACAATTACACCCACCCACACTT ACACCCACCCTTACATCTACCTCCACACCCACAATTACACCCACGCTTAC ATCTACCTCCACACTCGCACTTACACCCACACTTACATCTACCTCCACAC CCACACTTACACCCACCCACACTTACACCCACGCTTACATCTACCACACC CACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACA CCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCA CACCCACAATTACACCCACGCTTACATCTACCTCCACACTCGCACTTACA CCCACACTTACATCTACCTCCACACCCACACTTACACCCACGCTTACATC TACCTCCA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	290	0.0035	457	c.129 others(474): Show c.1290-942_1290-941insTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACAATT ACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACAA TTACACCCACGCTTACATCTACCTCCACACTCGCACTTACACCCACACTT ACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACGC TTACATCTACCACACCCACACTTACACCCACCCACACTTACACCCACCCT TACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACC CTTACATCTACCTCCACACCCACAATTACACCCACGCTTACATCTACCTC CACACTCGCACTTACACCCACACTTACATCTACCTCCACACCCACACTTA CACCCACGCTTACATCTACCTCCACACCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC74A_chr14_76821408_76875304	76867188	A A	AGTGTGTG others(450): Show AGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGG GGTGTGTGGGGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGGGGGGTGTGT GTTGGGGGGATGGGGTGTGTGTGTGGTAGTGTGTGGGGGGGGTGTGTGTG TTGGGGGTGGGGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTA GTGTGTGTGTGGGTGTGTGTGTGTTGGGGGGGTGGGGTGTGTGTGTGGTA GTGTGTGGGGGGGTGTGTGTGTTGGGGGTGGGGTGTGTGTGTTGGGGGGT GGGGTGTGTGTGTGTGTGGTAGTGTGTGTGGGGTGTGTGGGTGTGTTGGG GGGTGGGGTGTGTGTGTGGGGGGGGTGTGTTGGGGGATGGGGTGTGTGTG TGGTAGTGTGGGGGGGTGTGTGTTTTGGGGGGGTGTGTGTGGTAGTGTGT GTGTGGGT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0362 a0003c0003t0001g0362	1	408	0.0025	457	c.130 others(474): Show c.1309-117_1309-116insTGTGTGGGGTGTGTTGGGGGGTGGGGTG TGTGTGTGTGGGGGGTGTGTGTTGGGGGGATGGGGTGTGTGTGTGGTAGT GTGTGGGGGGGGTGTGTGTGTTGGGGGTGGGGTGTGTGTGTTGGGGGGTG GGGTGTGTGTGTGTGTGGTAGTGTGTGTGTGGGTGTGTGTGTGTTGGGGG GGTGGGGTGTGTGTGTGGTAGTGTGTGGGGGGGTGTGTGTGTTGGGGGTG GGGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTG GGGTGTGTGGGTGTGTTGGGGGGTGGGGTGTGTGTGTGGGGGGGGTGTGT TGGGGGATGGGGTGTGTGTGTGGTAGTGTGGGGGGGTGTGTGTTTTGGGG GGGTGTGTGTGGTAGTGTGTGTGTGGGTGTGTGTGTGTTGGGGGGTGGGG TGTGTGTGTGTGTGGTAGTGTGTGTGGGG	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(450): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCA CATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCACATGGGCTCC TGGCGAGTGTGCCCCCTGTGCCTCACATAGGCTCCTGGCGAGTGTGCCCC CCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCT CCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTCCTCACATGG GCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGA GTGTGCCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCC CCACGCCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00673.hp1 HG01346.hp2 others(11): Show HG00140.hp1 HG00673.hp1 HG01346.hp2 HG02300.hp1 NA18952.hp1 NA18959.hp1 NA18970.hp2 NA18971.hp1 NA19004.hp1 NA19066.hp2 NA19079.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1	a0001 a0005 a0006 others(4): Show a0001 a0005 a0006 a0012 a0013 a0029 a0096	a0001c0001 a0005c0005 a0006c0006 others(4): Show a0001c0001 a0005c0005 a0006c0006 a0012c0016 a0013c0018 a0029c0101 a0096c0059	a0001c0001t0001 a0001c0001t0007 a0001c0001t0047 others(8): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0047 a0005c0005t0048 a0006c0006t0001 a0006c0006t0016 a0006c0006t0060 a0012c0016t0003 a0013c0018t0016 a0029c0101t0003 a0096c0059t0003	a0001c0001t0001g0159 a0001c0001t0001g0223 a0001c0001t0007g0227 others(11): Show a0001c0001t0001g0159 a0001c0001t0001g0223 a0001c0001t0007g0227 a0001c0001t0047g0021 a0005c0005t0048g0127 a0006c0006t0001g0054 a0006c0006t0001g0166 a0006c0006t0016g0224 a0006c0006t0060g0284 a0012c0016t0003g0161 a0013c0018t0016g0142 a0013c0018t0016g0143 a0029c0101t0003g0221 a0096c0059t0003g0085	14	292	0.0480	457	c.218 others(472): Show c.2189-97_2189-96insAGGCGTGGGGGGCACACTCGCCAGGAGCCC ATGTGAGGAGGCGCGGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGA GGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCCGGGGG GGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCG CCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCT ATGTGAGGCACAGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCG GGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTC GCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGT GAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGTGGGGG GCACACTCGCCAGGAGCCCATGTGAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(450): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGGAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGA GGCGGAGCAGTAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGG GAAAAGAGGAGGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAG GAGGAGGAGAGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGG GAAAGGAGGGTGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAG GGGGAGAGGAGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAG GAAGAGGA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0010 a0010	a0010c0067 a0010c0067	a0010c0067t0001 a0010c0067t0001	a0010c0067t0001g0173 a0010c0067t0001g0173	1	280	0.0036	457	c.641 others(472): Show c.641+260_641+261insTCCTCTTCCTCCTGTTCCTCCTCTCCCTTC TCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCCTTCTCTCTC TTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTGTCCTCACCC TTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCCCCTTCCTTC TCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATCCTTCCCCTC CTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTTCCCCTTCCT CCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTC CCCCTTTTTCCCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTC CCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCCT CCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(450): Show TGGGGGAGTGTGGTTGGTGGGGGAGTGTGATTGGTGGGGGAGTGTGGTTG GTAGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTT GGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGGT TGGTGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTG GTTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTTGTGGGGGAGTGT GGTTGGGGGAGTGTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTGTGG TTGAGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTGTGGT TGGTGGGGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGTGTGG TTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGT GGTTGATG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0006 a0006	a0006c0025 a0006c0025	a0006c0025t0005 a0006c0025t0005	a0006c0025t0005g0147 a0006c0025t0005g0147	1	360	0.0028	457	c.57+ others(474): Show c.57+19144_57+19145insGTGGGGGAGTGTGATTGGTGGGGGAGTG TGGTTGGTAGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGT GTGGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGTTTGGTGGGGGAG TGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTTGTGGGG GAGTGTGGTTGGGGGAGTGTGGTTGATGGGTGGAGTGTGGTTGAGGGGGA GTGTGGTTGAGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAG TGTGGTTGGTGGGGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGGA GTGTGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGG GAGTGTGGTTGATGGGGGGAGTGTGGTTG	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MPPED1_chr22_43407014_43512848	43432644	G G	GAGAGAGA others(450): Show GAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGG AGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGG AGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAA GGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAG AGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGA GAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGA GGAGAGAGAGATAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAG GGAGGAGA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0117 a0001c0001t0013g0117	1	250	0.0040	457	c.225 others(474): Show c.225-2390_225-2389insAGAGAGAGGGAAAGAGAGAGAGAAGGGG AGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAG GAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAG AGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAG GAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGG GAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAT AAAGGGAGGAGAGAGAGAAAGGGAGGAGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6			chr22	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(450): Show TGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGT GGGGGGGTGGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTG GGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	356	0.0028	457	c.91+ others(470): Show c.91+403_91+404insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGT CGGGGGGTGGGGGGGTGGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTG GGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGGGTGAGGGAGTTGGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397709	T T	TGAGGGAG others(450): Show TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02818.hp2 HG03540.hp1 HG02451.hp2 HG02818.hp2 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0013 a0001c0003t0001g0013	3	356	0.0084	457	c.91+ others(470): Show c.91+397_91+398insAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397709	T T	TGAGGGAG others(450): Show TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGTGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0241 a0001c0003t0001g0241	1	356	0.0028	457	c.91+ others(470): Show c.91+397_91+398insAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGG GGGTGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(450): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGAGTGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0265 a0001c0005t0001g0265	1	356	0.0028	457	c.91+ others(470): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GAGTGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGCTGAG GGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOTCH1_chr9_136489433_136551048	136535833	A A	AGGGGGGA others(450): Show AGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTG GAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGG GTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0010 a0001c0007t0010	a0001c0007t0010g0278 a0001c0007t0010g0278	1	324	0.0031	457	c.140 others(474): Show c.140+8190_140+8191insGACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCC CGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACTCATTG CCCCGGGAGGGATCCTGAGTGCTCCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(450): Show GGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGGAGGGGGAGGG GTGGTGGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGGATGGGGG AGGGAGAAGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGG GAGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGGAGGGGAAGGGGAGGAA GAGGGGAGGGGAGGAGGAAGGGGGAGGGGGGAGGGGAGGAGGAAGGGGGA GGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGAGGG AGGGGAGGAGGGGGAAGGGAGGGGAGGAGGCGGAAGGGAGGGGAGGGGAG GAGGGGGGAGGGAGAGGGGAGGGGAAGAAGAAGGGGAAGGGGGAGGGGAG GGGAGGAA	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0139 a0002c0002t0139	a0002c0002t0139g0053 a0002c0002t0139g0053	1	344	0.0029	457	c.154 others(474): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCTTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCG CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTC CCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCCCC CTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCCATCCCCTCCCTTTCC CCTCTCCCTTTCCCCTCTCCCTCCCACCACCCCTCCCCCTCCCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCTCCCC CTCCCCTCCTCCCCTCCTCCCCCCCTCCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NT5DC3_chr12_103767310_103846234	103768598	G G	GGGGAGGG others(450): Show GGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGA GAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGGGA GAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGG GAGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAG GGAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGG AGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGA GGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGAGGGAGAGGGAT GGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGG GAGAGGGGGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGA GAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0073 a0001c0002t0015g0073	1	386	0.0026	457	c.92 others(468): Show c.9230_*9231insTCTCCCTCTCTCTCTCACTCCCTTTCCCTCTCTC TCCCTCTCCCTCTCTCCCCCTCTCCCTCCCCCTCTCCCTCTCCTTCTCCC TCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCATCCCTCTCC CTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTCTCCCTCTCC CTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCT CCCTCCTTCTCTCCCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCCTCC CCTCCCACCCCCTCCCTCTCTCTCCCCCCTCTCCCCCTCCCCTCCCTCTC CCCCCTCCCCTCCCTCTCCCTCTCTCCCTCCCTCTCCCTGTCCCTCTCCC TCTCCCTCCCCCTCTCCCTCCCTCTCTCTCCCTCTCCCTCTCCCTGTCCC TGTCCCTCTCCCTCCCCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3711		chr12	TogoVar
NTF3_chr12_5427108_5500299	5481483	G G	GCACATAC others(450): Show GCACATACAAACAGAATAACACCACACACACACCACAGACACAGAAATAA CACCACACACACATGCACATACACACACCACATACACACAGAATAACACC ACACACACATGCACACACACACAGAATAACACGATACACACATGCACATA CACCACAGACACACACAGAATAGCGCGACACACGTGCACACATAGACATA CACACACCACACACACAGAATAACACCAGAAACATGCACACACAGACATA CACACACCACACACGGAATAACACCACCCACACATGCACACACACACAGA ATAACACCACACACACGCACATACACACACCACACACAGAGTAACACACA CGCACACACACAGATATACACCACACACAGAATACCACCACACACACATG CACACATGCATACAGACATACATCACACACACAATAACATAACACACATG CACACAGT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0188 a0001c0002t0001g0188	1	370	0.0027	457	c.19- others(474): Show c.19-12707_19-12706insTACAAACAGAATAACACCACACACACAC CACAGACACAGAAATAACACCACACACACATGCACATACACACACCACAT ACACACAGAATAACACCACACACACATGCACACACACACAGAATAACACG ATACACACATGCACATACACCACAGACACACACAGAATAGCGCGACACAC GTGCACACATAGACATACACACACCACACACACAGAATAACACCAGAAAC ATGCACACACAGACATACACACACCACACACGGAATAACACCACCCACAC ATGCACACACACACAGAATAACACCACACACACGCACATACACACACCAC ACACAGAGTAACACACACGCACACACACAGATATACACCACACACAGAAT ACCACCACACACACATGCACACATGCATACAGACATACATCACACACACA ATAACATAACACACATGCACACAGTCACA	NTF3	ENSG00000185652.12	transcript	ENST00000423158.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
NTF3_chr12_5427108_5500299	5481483	G G	GCACATAC others(450): Show GCACATACAAACAGAATAACACCACACACACACCACAGACACAGAAATAA CACCACACACACATGCACATACACACACCACATACACACAGAATAACACC ACACACACATGCACACACACACAGAATAACACGATACACACATGCACATA CACCACAGACACACACAGAATAGCGCGACACACGTGCACACATAGACATA CACACACCACACACACAGAATAACACCAGAAACATGCACACACAGACATA CACACACCACACACGGAATAACACCACCCACACATGCGCACACACACAGA ATAACACCACACACACGCACATACACACACCACACACAGAGTAACACACA CGCACACACACAGATATACACCACACACAGAATACCACCACACACACATG CACACATGCATACAGACATACATCACACACACAATAACATAACACACATG CACACAGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00558.hp1 others(26): Show HG00323.hp2 HG00408.hp1 HG00558.hp1 HG00621.hp2 HG00673.hp2 HG00733.hp2 HG01069.hp1 HG01081.hp2 HG01099.hp1 HG01192.hp1 HG01261.hp2 HG01516.hp2 HG01517.hp2 HG02083.hp1 HG02559.hp1 HG02602.hp2 HG02683.hp2 HG02976.hp1 HG03017.hp1 HG03710.hp1 HG04115.hp1 NA18522.hp1 NA18943.hp2 NA18955.hp1 NA18971.hp2 NA18997.hp1 NA19000.hp2 NA19057.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0009t0001 a0002c0003t0001	a0001c0001t0001g0017 a0001c0001t0001g0142 a0001c0001t0001g0225 others(25): Show a0001c0001t0001g0017 a0001c0001t0001g0142 a0001c0001t0001g0225 a0001c0002t0001g0003 a0001c0002t0001g0013 a0001c0002t0001g0038 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0154 a0001c0002t0001g0158 a0001c0002t0001g0169 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0236 a0001c0002t0001g0270 a0001c0002t0001g0284 a0001c0002t0001g0288 a0001c0002t0001g0290 a0001c0002t0001g0332 a0001c0002t0001g0344 a0001c0004t0001g0277 a0001c0004t0001g0280 a0001c0009t0001g0287 a0002c0003t0001g0342	29	370	0.0784	457	c.19- others(474): Show c.19-12707_19-12706insTACAAACAGAATAACACCACACACACAC CACAGACACAGAAATAACACCACACACACATGCACATACACACACCACAT ACACACAGAATAACACCACACACACATGCACACACACACAGAATAACACG ATACACACATGCACATACACCACAGACACACACAGAATAGCGCGACACAC GTGCACACATAGACATACACACACCACACACACAGAATAACACCAGAAAC ATGCACACACAGACATACACACACCACACACGGAATAACACCACCCACAC ATGCGCACACACACAGAATAACACCACACACACGCACATACACACACCAC ACACAGAGTAACACACACGCACACACACAGATATACACCACACACAGAAT ACCACCACACACACATGCACACATGCATACAGACATACATCACACACACA ATAACATAACACACATGCACACAGTCACA	NTF3	ENSG00000185652.12	transcript	ENST00000423158.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
OSGIN1_chr16_83948240_83971332	83951969	T T	TCTTCCCT others(450): Show TCTTCCCTTCCTCCTTCCCTCCTCCCTCCTTCCCTCCCTCCCTGCCTCCC TCCCCCTCCCTCCTTCCCTCCCTGCCTTCCTCCCCCTTTCCCTCCCTCCC TCCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCT TCCCTCCCTCCTCCTTTCCTCCTCCCATCCCTTCCTCCTTCCCTCCCTCC CTCCTTCCCTCCCTGCCTTCCACCCTCCTTCCCTCCCTCCTCCCTTCCTC CCTCCTTCCCTCCGTCCTCCCTTCCTCCCTCCCTCCCTACTTCCCTCCCT CCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCC CTCCTTCCCTCCCTCCCTGCCTTCCTCCCTCCTTCCTTCCCTTCCCACCC TCCCTGCCTCCCTCCTTCCCTCCCTCCTGCCTCCTCCTTCCCTCCCTCCC TGCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0005 a0001c0002t0004g0005	1	350	0.0029	457	c.-14 others(468): Show c.-1434_-1433insCTTCCCTTCCTCCTTCCCTCCTCCCTCCTTCCCT CCCTCCCTGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCTTCCTCCCC CTTTCCCTCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCC TCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTTCCTCCTCCCATCCCTTCC TCCTTCCCTCCCTCCCTCCTTCCCTCCCTGCCTTCCACCCTCCTTCCCTC CCTCCTCCCTTCCTCCCTCCTTCCCTCCGTCCTCCCTTCCTCCCTCCCTC CCTACTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCC TCCTTTCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTTCCTCCCTCCTTC CTTCCCTTCCCACCCTCCCTGCCTCCCTCCTTCCCTCCCTCCTGCCTCCT CCTTCCCTCCCTCCCTGCCTCCC	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1270		chr16	TogoVar
OTOF_chr2_26452203_26483124	26476541	T T	TCCCCCAC others(450): Show TCCCCCACCCCTTCCCCAACCCTCCTTCCCCACCCCCCTTCCCCCACCCC TTCCCCCACCTCCTTCCCCACCCTTCCCCCCACCTCCTTCCCCACCCCTT CCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCC CCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCA CCTCCTTCCCCACCCCTTCCCCACCTCCTTCCCCACCCCTTCCCCACCTC CTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTT CCCCCACCCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCC CCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCC ACCACCTTCCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCC ACCCCTTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0094 a0001c0003t0001g0094	1	330	0.0030	457	c.436 others(472): Show c.436-225_436-224insGAAGGGGTGGGGAAGGAGGTGGGGGAAGGG GTGGGGAAGGAGGTGGGGGGAAGGTGGTGGGGAAGGAGGTGGGGGAAGGG GTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGT GGGGGAAGGGGTGGGGAAGGGGTGGGGGAAGGGGTGGGGGAAGGGGTGGG GAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGAAGGGGTGGGGAA GGAGGTGGGGAAGGGGTGGGGAAGGAGGTGGGGAAGGGGTGGGGAAGGAG GTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGT GGGGGAAGGGGTGGGGAAGGAGGTGGGGAAGGGGTGGGGAAGGAGGTGGG GGGAAGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGGGTGGG GAAGGAGGGTTGGGGAAGGGGTGGGGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
PCDH11Y_chrY_4995296_5747224	5525214	T T	TGGGAGGA others(450): Show TGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGGAGGAGGCGGAGGGGGAGG AGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGG AGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGCGTAGGAGGAGGAGGGGG AGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGG AGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAG GAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGA CGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGG GGGAGGAGGAGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGA GGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGA GGAGGAGG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	115	0.0087	457	c.305 others(478): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGCGTAGGAGGAGGAGGGGGAGGAG GGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAG GAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGC GGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGG AGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAG GAGGAGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGAGT GGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAGG AGGGGGAGGAGGAGGAGTGGGAGGAGGAGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCGF3_chr4_700832_775089	746523	C C	CGGGGGTC others(450): Show CGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAG TGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	366	0.0027	457	c.462 others(474): Show c.462+1839_462+1840insGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTC GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCSK5_chr9_75885673_76367975	76063865	G G	GTGGCCGG others(450): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCT CTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAG GGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGAC GGGGCGGC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0046 a0001c0001t0059g0046	1	166	0.0060	457	c.633 others(474): Show c.633-4052_633-4051insGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGTCGGGCGGGGGGCCGACACCCCCACCTCCCTCCC GGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAGGGGGGGCTGGCCGGGCA GGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGACGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76063865	G G	GTGGCCGG others(450): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCT CTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAG GGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGAC GGGGCGGC	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19240.hp2 HG02622.hp1 NA19240.hp2	a0003 a0048 a0003 a0048	a0003c0010 a0048c0083 a0003c0010 a0048c0083	a0003c0010t0054 a0048c0083t0020 a0003c0010t0054 a0048c0083t0020	a0003c0010t0054g0083 a0048c0083t0020g0076 a0003c0010t0054g0083 a0048c0083t0020g0076	2	166	0.0121	457	c.633 others(474): Show c.633-4052_633-4051insGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGTCGGGCGGGGGGCCGACACCCCCACCTCCCTCCC GGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAGGGGGGGCTGGCCGGGCA GGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGACGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PFKP_chr10_3062548_3141802	3085316	T T	TCCAGCAC others(450): Show TCCAGCACAGTCCCCCAAACCCTCCCCAGCACAGTCCCCCAACCCCTCCC CAGCACAGTCCCCCAACCCCTCCCCAGCACAGTCCCCCAACCCCTCCCCA GCAGTCCCCCACTCCACTCTCCAGCACAGTCCCCCACTCCCTCCCCAGCA CAGTCCCCCACTCCCTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCACA GTCCCCCACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCACAGT CCCCCACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCACAGTCC CCCACCCCTTCCCCAGCACAGTCCCCCACTCCACTCTCCAGCACAGTCCC CCACTCCACTCTCCAGCACAGTCCCCCAAACCCTCCCCAGCACAGTCCCC CACCCCCTCCCCAGCACAGTCCCCCACCCCCTCCCCAGCACAGTCCCCCA CCCCCTCC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0345 a0001c0002t0002g0345	1	402	0.0025	457	c.186 others(474): Show c.186+2871_186+2872insAACCCTCCCCAGCACAGTCCCCCAACCC CTCCCCAGCACAGTCCCCCAACCCCTCCCCAGCACAGTCCCCCAACCCCT CCCCAGCAGTCCCCCACTCCACTCTCCAGCACAGTCCCCCACTCCCTCCC CAGCACAGTCCCCCACTCCCTCCCCAGCACAGTCCCCCACCCCTTCCCCA GCACAGTCCCCCACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGC ACAGTCCCCCACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCAC AGTCCCCCACCCCTTCCCCAGCACAGTCCCCCACTCCACTCTCCAGCACA GTCCCCCACTCCACTCTCCAGCACAGTCCCCCAAACCCTCCCCAGCACAG TCCCCCACCCCCTCCCCAGCACAGTCCCCCACCCCCTCCCCAGCACAGTC CCCCACCCCCTCCCCAGCACAGTCCCCCA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
RFTN1_chr3_16310845_16518699	16404258	T T	TATTTTAT others(450): Show TATTTTATATATAATATATATTATATATTTTATATAAAATATATAATATA TATTTTATATAAAATATATAATATATATTTTATATATAATATATAATATA TATTTTATATATAATATATAATATATATTTTATATATAATATATTTTATA TATATATTATATATTTTATATATATAATATATAAAATATATATAATATAT AAAATATAAAATATATAATATATATATTATATAATATATATAATATATTA TATATAATATATATAATATATAATATATATAATATATATAATATATATAC AATATATAATATATATAATATATAATATATATATACAATATATAATATAT ATAATATATAATATATATAATATATATACAATATATAATATATATAATAT ATAATATATATATACAATATATAATATATATAATATATAATATATATAAT ATATATAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	268	0.0037	457	c.441 others(474): Show c.441+5116_441+5117insGTATATATATTATATATATTATATATTA TATATATTATATATTGTATATATATATTATATATTATATATATTATATAT TGTATATATATTATATATATTATATATTATATATATTATATATTGTATAT ATATATTATATATTATATATATTATATATTGTATATATATTATATATATT ATATATATTATATATTATATATATTATATATAATATATTATATATATTAT ATAATATATATATTATATATTTTATATTTTATATATTATATATATTTTAT ATATTATATATATAAAATATATAATATATATATAAAATATATTATATATA AAATATATATTATATATTATATATAAAATATATATTATATATTATATATA AAATATATATTATATATTTTATATAAAATATATATTATATATTTTATATA AAATATATAATATATATTATATATAAAAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RPH3AL_chr17_207389_357807	304998	A A	AGGGGGAC others(450): Show AGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGG GGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGG ACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACA GGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGG CGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGG GAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGA GGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGG GGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGA CAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAG GGCGGGAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0018 a0007c0014t0018	a0007c0014t0018g0102 a0007c0014t0018g0102	1	133	0.0075	457	c.351 others(476): Show c.351+14421_351+14422insCTCCCGCCCTGTCCCCCTCCCGCCCT GTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTC CCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCC CTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTC TCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCG CCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCC CTGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTG TCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCC CCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCC TCTCGCCCTGTCCCCTCTCGCCCTGTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TAATATAT others(450): Show TAATATATAATATATATAATATATAATATATAATATATAATATATAATAT ATATAATATATAATATATAATATATAATATATATAATATATAATATATAT ATAATATAATATATATATTATATATAATATATAATATATATAATATAATA TATATAATATAATATATATATTATATATAATATATATTATATATTATATA TAATATATATTTATATATAATATATAAATATATATTATATATAATATATA ATATATAATTATATATTATATATTATATATAATATATATTTATATATAAT ATATAAATATAATTATATATTATATATAATATATAAATATATATTATATA TAATATATAATATATATTTATATATTATATATTATATATAATATATATTT ATATATTATATATAATATATAAATATATATTATATATATTTAATATATAT TTTATATA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	1	188	0.0053	457	c.193 others(476): Show c.193-29585_193-29584insTATATAAAATATATATTAAATATATA TAATATATATTTATATATTATATATAATATATAAATATATATTATATATA ATATATAATATATAAATATATATTATATATTATATATAATATATATTTAT ATATTATATATAATATATAATTATATTTATATATTATATATAAATATATA TTATATATAATATATAATATATAATTATATATTATATATTATATATAATA TATATTTATATATTATATATAAATATATATTATATATAATATATAATATA TATTATATATAATATATATATTATATTATATATATTATATTATATATATT ATATATTATATATAATATATATATTATATTATATATATATTATATATTAT ATATATTATATATTATATATTATATATTATATATATTATATATTATATAT TATATATTATATATTATATATATTATATATT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGG others(450): Show TTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGA GTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAG TGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTG GGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGG TTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGT GAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGG TGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTG GGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGG TTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGG GGGTGGGG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0251 a0001c0018t0001g0251	1	290	0.0035	457	c.464 others(470): Show c.464+91_464+92insTGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTG GGTGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGG TGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTG GGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAG GGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGT GGGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGG TGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTG GGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGG TGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGG GGTTGGGTGAGGGGGGTGGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	4083708	T T	TCCTCCCT others(450): Show TCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCC CTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACT TCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCC CTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCCT CCCTTCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCTCTCCCTTCTTTA CTTCTTCCCTCCCTCCTTTACTTCCTCTCTCCCTTCTTTACTTCCTCCCT CCCTTCTTTACTTCCTCCCTTCCTTCTTTACTTCTTCCCTCCCTCCTTTA CTTCCTCTCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCT TCCTTCTTTACTTCCTCCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTT ACTTGCTC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0023 a0001c0005t0001g0023	1	116	0.0086	457	c.332 others(476): Show c.3324+4149_3324+4150insCTCCCTTCTTTACTTCCTCCCTCCCT CCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTC CTCCCTCCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCT CCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCCTCC CTTCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCTCTCCCTTCTTTACT TCTTCCCTCCCTCCTTTACTTCCTCTCTCCCTTCTTTACTTCCTCCCTCC CTTCTTTACTTCCTCCCTTCCTTCTTTACTTCTTCCCTCCCTCCTTTACT TCCTCTCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTTC CTTCTTTACTTCCTCCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTAC TTGCTCCCTCCCTCCCTTCTTTACTTCCTCC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SENP7_chr3_101319205_101518212	101439806	C C	CGTCCGGG others(450): Show CGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGC CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGG GGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGG GTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCA GCCGCCCT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0051 a0002c0002t0003g0051	1	370	0.0027	457	c.284 others(476): Show c.284+19148_284+19149insAGGGCGGCTGGCTGGGCGGGGGGGCT GACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCT GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC TGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGG GGGCCGACCCCCCCCCACCTCCCTCCCGGAC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SLC6A3_chr5_1387794_1450440	1414431	A A	ACTGGGTG others(450): Show ACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGG GCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGC AGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAG GCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGG GGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGG GCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGA AGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTG GGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCTGGAG GGGCAGGGCGGGGAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCGG GGAAGGCG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	373	0.0027	457	c.115 others(474): Show c.1156+259_1156+260insCGCCTTCCCCGCCCTGCCCCTCCCGGCC CCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGT GCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCC CTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCG GCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCA GTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCG CCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCC CGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACC CAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC CGCCCTGCCCCTCCCGGCCCCCCACCCAG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168726538	G G	GGCAGGGA others(450): Show GGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGG CAAGGAGGGAGGGAGGGGGAGGGAGGGAGGGAGAGGGAGGGAGGGTGGGA GGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGG GAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGTGGGAGGGA GGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGACG GAGAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGA GAGGGAGGCAGGGAGGGAGGGAGGGGGAGGGAGGCAGGGAGAGGGAGGCA AGGAGGGAGGGAGGGAGGGAGAGGGAGGGAGAGGGAGGCAGGGAGAGAGG GAGGGAGAGGGAGGCAGGGAGGGAGAGGGACGCAGGGGGAGAGGGAGGAA GGGAGAGA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0004 a0004	a0004c0036 a0004c0036	a0004c0036t0010 a0004c0036t0010	a0004c0036t0010g0129 a0004c0036t0010g0129	1	132	0.0076	457	c.227 others(476): Show c.2271-2055_2271-2054insTCTCTCCCTTCCTCCCTCTCCCCCTG CGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCCTCTCTCCCTGCCTCCC TCTCCCTCCCTCTCCCTCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTGCC TCCCTCCCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTG CCTCCCTCTCCCTCCCTCCCTGCCTCCCTCTCCGTCCCTCCCTGCCTCCC TCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCACCCTCCCTC TCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCACCCTCCCTCCCTCTC CCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTC TCCCTCCCTCCCTCCCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTCCCTC CCTCCCTGCCTCCCTCTCCCTCCCTCCCTGC	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SLX9_chr21_44935029_44981973	44981929	C C	CGGGGCCC others(450): Show CGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACAGCGGG GCCTGGACGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGAC AGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAG GGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGG TGTTCAGGGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTG CGTGTGGTGTTCAGGGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACA GAGCCTGCGTGTGGTGTTCAGGGGGGACAGCGGGGCCTGGACGGGGGCCC TGCACACAGAGCCTGCGTGTGGTGTTCAGGGGGGACAGCGGGGCCTGGAC GGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGGGGGGACAGCGGGG CCTGGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	334	0.0030	457	c.51 others(468): Show c.5126_*5127insGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTC AGAGGGGACAGCGGGGCCTGGACGGGCCCTGCACACAGAGCCTGCGTGTG GTGTTCAGAGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCT GCGTGTGGTGTTCAGGGGGGACAGCGGGGCCTGGACGGGGCCCTGCACAC AGAGCCTGCGTGTGGTGTTCAGGGGGGACAGCGGGGCCTGGACGGGGCCC TGCACACAGAGCCTGCGTGTGGTGTTCAGGGGGGACAGCGGGGCCTGGAC GGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGGGGGGACAGCGGGG CCTGGACGGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGGGGGGA CAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCA GGGGGGACAGCGGGGCCTGGACG	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		4957		chr21	TogoVar
SMYD3_chr1_245744347_246512279	246072066	G G	GTTAGTTC others(450): Show GTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCTTT GCATCCTGTTAGTTCTGGGGAGGGATTCATGTGCTTTCCACTGTGCTCAC TGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTG TGCTCACTGTCTTTGCATCCTGTTAGTTCTGGGGAGGGATTCATGTGCTT TCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCG TGTGCTTTCCACTGTGCTCACTGTCTTTGCATCCTGTTAGTTCTGGGGAG GGATTCATGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTC TGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCTTTGCATCCTG TTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCTTTG CATCCTGT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	150	0.0067	457	c.532 others(478): Show c.532-142130_532-142129insACAGGATGCAAAGACAGTGAGCAC AGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGATGCAAAGACAG TGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCA TCCACAGTGAGCACAGTGGAAAGCACATGAATCCCTCCCCAGAACTAACA GGATGCAAAGACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGA ACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCACATGAATCCCT CCCCAGAACTAACAGGATGCAAAGACAGTGAGCACAGTGGAAAGCACACG AATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAA GCACATGAATCCCTCCCCAGAACTAACAGGATGCAAAGACAGTGAGCACA GTGGAAAGCACACGAATCCCTCCCCAGAACTAA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SPACA6_chr19_51688330_51710190	51704885	A A	AGCCCCTC others(450): Show AGCCCCTCCTCCCTCAGATCCAGGAGTCCAGGCCCCCAGTCCTTCCACCC GCAGACCCAGAAATCCATGACCCTAGCCCCTCCTCCCTCAGACCCAGGTG TCCAGGACCCCAGCCCTCTCCTCCCTCAGACCCAGGTTTCCATCCAGGCC CCTGGCCCCTCCTCCCTCAGACCCAGGAATCCAGGCCCCCAGCCCTTCCA CCCGCAGACCCAGAAATCCAAGCCCCCAGCCCCTCCTCCCTAAGACCCAG GAGTCCAGGGCCCCCAGCCCCCTCTCCCTCAGACCCAGGTTTCCATCCAG GCCCCGGACCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCTCTC CTCCCTCAGACCCAGGTTTCCATCCAGGCCCCGGACCCCTCCTCCCTCAG ACCCAGGAGTCCAGGCCCCAGCCCTCTCCTCCCTCAGACCCAGGAGTCCA GGCCCCTG	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	416	0.0024	457	c.942 others(472): Show c.942-184_942-183insGGAGTCCAGGCCCCCAGTCCTTCCACCCGC AGACCCAGAAATCCATGACCCTAGCCCCTCCTCCCTCAGACCCAGGTGTC CAGGACCCCAGCCCTCTCCTCCCTCAGACCCAGGTTTCCATCCAGGCCCC TGGCCCCTCCTCCCTCAGACCCAGGAATCCAGGCCCCCAGCCCTTCCACC CGCAGACCCAGAAATCCAAGCCCCCAGCCCCTCCTCCCTAAGACCCAGGA GTCCAGGGCCCCCAGCCCCCTCTCCCTCAGACCCAGGTTTCCATCCAGGC CCCGGACCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCTCTCCT CCCTCAGACCCAGGTTTCCATCCAGGCCCCGGACCCCTCCTCCCTCAGAC CCAGGAGTCCAGGCCCCAGCCCTCTCCTCCCTCAGACCCAGGAGTCCAGG CCCCTGGCCCCTCCTCCCTCAGATCCA	SPACA6	ENSG00000182310.16	transcript	ENST00000637797.2	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(450): Show GATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTATA TATATTATATATGATTATAAAATATAATTATATATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA19004.hp2 NA18986.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0235 a0001c0001t0006g0251 a0001c0001t0006g0235 a0001c0001t0006g0251	2	268	0.0075	457	c.75 others(468): Show c.7501_*7502insATTATAAAATATAATTATATATTATATATGATTA TAAAATATAATTATATATATTATATATGATTATAAAATATAATTATATAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT ATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(450): Show GGAGGGGGAGAGAGAGGGGGAGGGGGGAGAGAGTGGGGAGGGAGAGAGAG AAGGGGAGGCGGAGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGA GGGGGGAGAGAGGGGGAGGGGGGGAGAGAGGGGGAGGGGGGGGAGAGAGG GGAGAGGAGGGGGGAGAGAGGGGGGAGAGGGGGAAGGGAGGGGGGGAGGG AGGGGGGAGAGAGAGGGGGAGGAGGGGGAGAGAGAGGGGGAGGGAGGGAG GGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGAGGGAGGGGGA GGAGGAGGGGGGAGGGGAGAGGGGGAGAGAGAGGGGAGGGAGGGGGGAGA GAGGGGGAGGGAGGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAG GGGGAGGGGGGGAGAGAGAGGGGAGGGAGGGAGGGAGGGAGGGAGAGAGA GAGAGAGA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0037 a0001c0002t0037	a0001c0002t0037g0115 a0001c0002t0037g0115	1	276	0.0036	457	c.-18 others(476): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCTCCCTCCCTCCC TCCCTCCCTCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCC TCCCCCTCTCTCTCCCCCCCTCCCTCCCCCTCTCTCCCCCCTCCCTCCCC TCTCTCTCCCCCTCTCCCCTCCCCCCTCCTCCTCCCCCTCCCTCCCCTCT CTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCT CTCTCCCCCTCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCCTCCCTTC CCCCTCTCCCCCCTCTCTCCCCCCTCCTCTCCCCTCTCTCCCCCCCCTCC CCCTCTCTCCCCCCCTCCCCCTCTCTCCCCCCTCCCTCCCTCCCCCTCTC TCTCCCCCCTCCCTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCAC TCTCTCCCCCCTCCCCCTCTCTCTCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TCEA3_chr1_23375909_23429748	23392405	T T	TCATACAC others(450): Show TCATACACACACACTCCACACATCATACACACACACTCCACACATCATAC ACACACACTCCACACATCATACACACACACTCCACACATCATACATAAAA CACACTCCACACATCATACACACCACACACACTCCACACATCGTACACAA AACACACTCCACACATCATACACAAAACACACTCCACACATCATACACAC CACATACACTCCACACATCATACACACACACTCCACACATCATACACACA CACTCCACACGTCATACACACACACACACTCCACACATCATACACAATAC ACACTCCACACATCATACACAATACACACTCCACACATCATACACACACA CTCCACACATCATACACAATACACACTCCACACATCATACACAAAACACA CTCCACACATCATACACACACACTCCACACATCATGCACAATACACACAC ACTCCACA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	378	0.0027	457	c.819 others(474): Show c.819+1473_819+1474insTGTGGAGTGTGTGTGTATTGTGCATGAT GTGTGGAGTGTGTGTGTATGATGTGTGGAGTGTGTTTTGTGTATGATGTG TGGAGTGTGTATTGTGTATGATGTGTGGAGTGTGTGTGTATGATGTGTGG AGTGTGTATTGTGTATGATGTGTGGAGTGTGTATTGTGTATGATGTGTGG AGTGTGTGTGTGTGTATGACGTGTGGAGTGTGTGTGTATGATGTGTGGAG TGTGTGTGTATGATGTGTGGAGTGTATGTGGTGTGTATGATGTGTGGAGT GTGTTTTGTGTATGATGTGTGGAGTGTGTTTTGTGTACGATGTGTGGAGT GTGTGTGGTGTGTATGATGTGTGGAGTGTGTTTTATGTATGATGTGTGGA GTGTGTGTGTATGATGTGTGGAGTGTGTGTGTATGATGTGTGGAGTGTGT GTGTATGATGTGTGGAGTGTGTGTGTATG	TCEA3	ENSG00000204219.11	transcript	ENST00000450454.7	protein_coding	8/10			chr1	TogoVar
TMEM255B_chr13_113754226_113821995	113816252	G G	GGGGAGAC others(450): Show GGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTC ACTGCTCAGGGACACGGGTTCTTTTCGGGGAGACAAGCGTGTTCGCAGCG TGTTCTGGATGGGGAGAGGTGCAGTCACTGCTCAGGGACACGGGTTCTTT TCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAG TCACTGCTCAGGGACACGGGTTCTTTTCGGGAGACAAGCGTGTTCGCAGC GTGTTCTGGATGGGGAGAGGTGCAGTCACTGGTCAGGGACACGGGTTCTT TTCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCA GTCACTGGTCAGGGACACGAGTTCTTTTCGGGGAGGCAAGCATGTTCTAA GCGTGTTCTGGATGGGGAGGGAGGTGCAGTCACTGGTCAGGGACATGGTT TCTTTTCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0114	a0001c0001t0114g0068 a0001c0001t0114g0068	1	260	0.0039	457	c.43 others(468): Show c.4354_*4355insACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAG AGGTGCAGTCACTGCTCAGGGACACGGGTTCTTTTCGGGGAGACAAGCGT GTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGCTCAGGGACA CGGGTTCTTTTCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGG AGAGGTGCAGTCACTGCTCAGGGACACGGGTTCTTTTCGGGAGACAAGCG TGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGGTCAGGGAC ACGGGTTCTTTTCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGG GAGAGGTGCAGTCACTGGTCAGGGACACGAGTTCTTTTCGGGGAGGCAAG CATGTTCTAAGCGTGTTCTGGATGGGGAGGGAGGTGCAGTCACTGGTCAG GGACATGGTTTCTTTTCAGGGAG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	9/9	4355	INFO_REALIGN_3_PRIME	chr13	TogoVar
TP53AIP1_chr11_128930370_128947871	128930923	C C	CAGGGGTT others(450): Show CAGGGGTTGGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGG GTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAG GGAGACCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGAAG GCTGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCT GGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGG TTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGG GAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGG CCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGG GGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA AGGAGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG04199.hp2 HG02738.hp1 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0054 a0002c0002t0001g0054	2	466	0.0043	457	c.46 others(468): Show c.4667_*4668insAGCCTCCTTAACCCCGGCCTCCCTAACCCCGGCC TCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCC TAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACC CCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGG CCTCCTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTC CCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTG ACCCTTGGTCTCCCTAACCCCAGCCTTCCTAACCCCCAGCCTCCCTACCC TGGCCTCCCTAACCCCTGGTCTCCCTAACCCCGGCCTCCCTAACCCCAGC CTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCC TAACCCCGGCCTCCCCAACCCCT	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4446		chr11	TogoVar
TPK1_chr7_144446941_144841053	144780558	T T	TATATTAT others(450): Show TATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAATA TATATTATATTATATAGTATATAATATAGTATATATTATATAGTATATAA TATAGTATATATTATATAGTATATAATATAGTATATATTATATAGTATAT AATATAGTATATATTATATAGTATATAATATAGTATATATTATATAGTAT ATAATATAGTATATATTATATAGTATATAATATAGTATATATTATATAGT ATATAATATAGTATATTATATTATATAGTATATAATATAGTATATTATAT TATATAGTATATAATATATTATATTATATTATATAGTATATAATATAGTA TATTATATTATATAGTATATAATATAGTATATTATATTATATAGTATATA ATATAGTATATTATATTATATAGTATATAATATAGTATATTATATTATAT AGTATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0106	1	118	0.0085	457	c.44- others(474): Show c.44-14608_44-14607insTATATACTATATAATATAATATACTATA TTATATACTATATAATATAATATACTATATTATATACTATATAATATAAT ATACTATATTATATACTATATAATATAATATACTATATTATATACTATAT AATATAATATAATATATTATATACTATATAATATAATATACTATATTATA TACTATATAATATAATATACTATATTATATACTATATAATATATACTATA TTATATACTATATAATATATACTATATTATATACTATATAATATATACTA TATTATATACTATATAATATATACTATATTATATACTATATAATATATAC TATATTATATACTATATAATATATACTATATTATATACTATATAATATAT ACTATATTATATACTATATAATATAATATATATTATATACTATATAATAT AATATACTATATTATATACTATATAATAT	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	2/8			chr7	TogoVar
UNC5D_chr8_35230475_35801540	35248235	A A	AAGAAATA others(450): Show AAGAAATAGATATAATATATAAATATATGTTATATAAGAAATAGATATAA TATATAAATATATGTTATATAAGAAATAGATATAATATATAAATATATGT TATATATGAAATAGATATAATATATAAATATATGTTATATATGAAATAGA TATAATATATAAATATATGTTATATATGAAATAGATATAATATATAAATA TATGTTATATATGAAATAGATATAATATATAAATATATGTTATATATGAA ATAGATATAATATATAAATATATGTTATATATGAAATAGATATAATATAT AAATATATGTTATATATGAAATAGATATAATATATAAATATATGTTATAT ATGAAATAGATATAATATATAAATATATGTTATATATGAAATAGATATAA TATATAAATATATGTTATATATGAAATAGATATAATATATAAATATATGT TATATATG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0022 a0001c0003t0003g0022	1	64	0.0156	457	c.103 others(476): Show c.103+12349_103+12350insGAAATAGATATAATATATAAATATAT GTTATATAAGAAATAGATATAATATATAAATATATGTTATATAAGAAATA GATATAATATATAAATATATGTTATATATGAAATAGATATAATATATAAA TATATGTTATATATGAAATAGATATAATATATAAATATATGTTATATATG AAATAGATATAATATATAAATATATGTTATATATGAAATAGATATAATAT ATAAATATATGTTATATATGAAATAGATATAATATATAAATATATGTTAT ATATGAAATAGATATAATATATAAATATATGTTATATATGAAATAGATAT AATATATAAATATATGTTATATATGAAATAGATATAATATATAAATATAT GTTATATATGAAATAGATATAATATATAAATATATGTTATATATGAAATA GATATAATATATAAATATATGTTATATATGA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
USP37_chr2_218445251_218573351	218557668	G G	GCTGTAAT others(450): Show GCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACAAGGTCA AGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAA AATACAAAAAATTAGCTGGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTA CTCGAGAGGCTGAGGCAGGAGGATGGTATGAACCCAGGAGGCAGGGTTTG CAGTAAGCCGAGATCACACCACCGCACTCCAGCCTGGGCAACAGAGCGAG ACTCCGTCTCAAAAAACAAAACAAAAAGCAAAAAAACCCCATATATATAT ATATATATATATATATATATATATATATATATGATCTTAAAGTGCAGAAA AACATAAAACATTATGTTCTTAACTTCAACTCATATCAAGATGAGTAACT TGGTTGCATAAGAGAAGCAATAAAGAAGTGAAAACAGGCTGGGCGCAGTG GCTCACAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02886.hp2 HG02976.hp1 HG02717.hp2 HG02886.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0016 a0001c0001t0012 a0001c0001t0016	a0001c0001t0012g0136 a0001c0001t0016g0138 a0001c0001t0016g0139 a0001c0001t0012g0136 a0001c0001t0016g0138 a0001c0001t0016g0139	3	282	0.0106	457	c.156 others(472): Show c.156+829_156+830insGTGTGAGCCACTGCGCCCAGCCTGTTTTCA CTTCTTTATTGCTTCTCTTATGCAACCAAGTTACTCATCTTGATATGAGT TGAAGTTAAGAACATAATGTTTTATGTTTTTCTGCACTTTAAGATCATAT ATATATATATATATATATATATATATATATATATATATGGGGTTTTTTTG CTTTTTGTTTTGTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGG AGTGCGGTGGTGTGATCTCGGCTTACTGCAAACCCTGCCTCCTGGGTTCA TACCATCCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACTACAGGCGCCTG CCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCAC CGTGTTAGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCCACCTGCCT CAGCCTCCCAAAGTGCTGGGATTACAG	USP37	ENSG00000135913.11	transcript	ENST00000258399.8	protein_coding	4/25			chr2	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(450): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTC TCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCC TCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCC CCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCC CCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTC TCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCT TCCCCCTC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02976.hp1 HG03579.hp2 others(1): Show HG02559.hp1 HG02976.hp1 HG03579.hp2 NA18522.hp2	a0007 a0012 a0007 a0012	a0007c0008 a0012c0024 a0007c0008 a0012c0024	a0007c0008t0005 a0012c0024t0004 a0007c0008t0005 a0012c0024t0004	a0007c0008t0005g0132 a0007c0008t0005g0133 a0007c0008t0005g0134 others(1): Show a0007c0008t0005g0132 a0007c0008t0005g0133 a0007c0008t0005g0134 a0012c0024t0004g0091	4	246	0.0163	457	c.53- others(470): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTC CTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCC TCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCC TCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTC CTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTC CCCCTCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTC TCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCC CTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar

Search by Variant

Search

Search Results